[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ASP-96.
DOI=10.1093/hmg/3.9.1647; PubMed=7833924 [NCBI, ExPASy, EBI, Israel, Japan]
Petrukhin K.,
Lutsenko S.,
Chernov I.,
Ross B.M.,
Kaplan J.H.,
Gilliam T.C.;
"Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.";
Hum. Mol. Genet. 3:1647-1656(1994).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), AND VARIANTS ALA-406; LEU-456; GLY-875 AND ALA-1140.
Carlini E.J.,
Booth-Genthe C.L.;
"Molecular cloning of mutant ATP7B.";
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS GLY-875 AND ARG-952.
DOI=10.1038/nature02379; PubMed=15057823 [NCBI, ExPASy, EBI, Israel, Japan]
Dunham A.,
Matthews L.H.,
Burton J.,
Ashurst J.L.,
Howe K.L.,
Ashcroft K.J.,
Beare D.M.,
Burford D.C.,
Hunt S.E.,
Griffiths-Jones S.,
Jones M.C.,
Keenan S.J.,
Oliver K.,
Scott C.E.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Andrews D.T.,
Ashwell R.I.S., ![]()
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Bannerjee R.,
Barlow K.F.,
Bates K.,
Beasley H.,
Bird C.P.,
Bray-Allen S.,
Brown A.J.,
Brown J.Y.,
Burrill W.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clamp M.E.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.C.,
Cobley V.,
Collins J.E.,
Corby N.,
Coville G.J.,
Deloukas P.,
Dhami P.,
Dunham I.,
Dunn M.,
Earthrowl M.E.,
Ellington A.G.,
Faulkner L.,
Frankish A.G.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Gilbert J.G.R.,
Gilson C.J.,
Ghori J.,
Grafham D.V.,
Gribble S.M.,
Griffiths C.,
Hall R.E.,
Hammond S.,
Harley J.L.,
Hart E.A.,
Heath P.D.,
Howden P.J.,
Huckle E.J.,
Hunt P.J.,
Hunt A.R.,
Johnson C.,
Johnson D.,
Kay M.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.J.,
Lawlor S.,
Leongamornlert D.A.,
Lloyd D.M.,
Lloyd C.,
Loveland J.E.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
McLaren S.J.,
McMurray A.,
Milne S.,
Moore M.J.F.,
Nickerson T.,
Palmer S.A.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phillimore B.,
Porter K.M.,
Rice C.M.,
Searle S.,
Sehra H.K.,
Shownkeen R.,
Skuce C.D.,
Smith M.,
Steward C.A.,
Sycamore N.,
Tester J.,
Thomas D.W.,
Tracey A.,
Tromans A.,
Tubby B.,
Wall M.,
Wallis J.M.,
West A.P.,
Whitehead S.L.,
Willey D.L.,
Wilming L.,
Wray P.W.,
Wright M.W.,
Young L.,
Coulson A.,
Durbin R.M.,
Hubbard T.,
Sulston J.E.,
Beck S.,
Bentley D.R.,
Rogers J.,
Ross M.T.;
"The DNA sequence and analysis of human chromosome 13.";
Nature 428:522-528(2004).
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[4]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-17.
DOI=10.1006/bbrc.1999.0732; PubMed=10334941 [NCBI, ExPASy, EBI, Israel, Japan]
Oh W.J.,
Kim E.K.,
Park K.D.,
Hahn S.H.,
Yoo O.J.;
"Cloning and characterization of the promoter region of the Wilson disease gene.";
Biochem. Biophys. Res. Commun. 259:206-211(1999).
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] OF 33-1465 (ISOFORM 1), AND VARIANT GLY-875.
DOI=10.1038/ng1293-327; PubMed=8298639 [NCBI, ExPASy, EBI, Israel, Japan]
Bull P.C.,
Thomas G.R.,
Rommens J.M.,
Forbes J.R.,
Cox D.W.;
"The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.";
Nat. Genet. 5:327-337(1993).
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[6]
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SEQUENCE REVISION.
Cox D.W.;
Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases.
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[7]
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NUCLEOTIDE SEQUENCE [MRNA] OF 149-1465 (ISOFORM 2), AND VARIANTS WD GLN-1069 AND SER-1270.
DOI=10.1038/ng1293-344; PubMed=8298641 [NCBI, ExPASy, EBI, Israel, Japan]
Tanzi R.E.,
Petrukhin K.,
Chernov I.,
Pellequer J.L.,
Wasco W.,
Ross B.,
Romano D.M.,
Parano E.,
Pavone L.,
Brzustowicz L.M.,
Devoto M.,
Peppercorn J.,
Bush A.I.,
Sternlieb I.,
Pirastu M.,
Gusella J.F.,
Evgrafov O.,
Penchaszadeh G.K.,
Honig B., ![]()
Edelman I.S.,
Soares M.B.,
Scheinberg I.H.,
Gilliam T.C.;
"The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.";
Nat. Genet. 5:344-350(1993).
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[8]
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NUCLEOTIDE SEQUENCE [MRNA] OF 488-837 (ISOFORM 4), AND VARIANT ARG-832.
TISSUE=Liver;
DOI=10.1006/bbrc.1993.2471; PubMed=8250934 [NCBI, ExPASy, EBI, Israel, Japan]
Yamaguchi Y.,
Heiny M.E.,
Gitlin J.D.;
"Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.";
Biochem. Biophys. Res. Commun. 197:271-277(1993).
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[9]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 786-1465, AND VARIANTS ARG-832; GLY-875 AND ALA-1140.
TISSUE=Brain;
Totoki Y.,
Toyoda A.,
Takeda T.,
Sakaki Y.,
Tanaka A.,
Yokoyama S.,
Ohara O.,
Nagase T.,
Kikuno F.R.;
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
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[10]
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PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS WD, AND VARIANTS.
DOI=10.1038/ng0295-210; PubMed=7626145 [NCBI, ExPASy, EBI, Israel, Japan]
Thomas G.R.,
Forbes J.R.,
Roberts E.A.,
Walshe J.M.,
Cox D.W.;
"The Wilson disease gene: spectrum of mutations and their consequences.";
Nat. Genet. 9:210-216(1995).
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[11]
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ERRATUM.
Thomas G.R.,
Forbes J.R.,
Roberts E.A.,
Walshe J.M.,
Cox D.W.;
Nat. Genet. 9:451-451(1995).
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[12]
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ALTERNATIVE SPLICING, AND SUBCELLULAR LOCATION.
PubMed=9307043 [NCBI, ExPASy, EBI, Israel, Japan]
Yang X.-L.,
Miura N.,
Kawarada Y.,
Terada K.,
Petrukhin K.,
Gilliam T.C.,
Sugiyama T.;
"Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.";
Biochem. J. 326:897-902(1997).
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[13]
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POSSIBLE PROTEOLYTIC CLEAVAGE.
DOI=10.1073/pnas.95.11.6004; PubMed=9600907 [NCBI, ExPASy, EBI, Israel, Japan]
Lutsenko S.,
Cooper M.J.;
"Localization of the Wilson's disease protein product to mitochondria.";
Proc. Natl. Acad. Sci. U.S.A. 95:6004-6009(1998).
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[14]
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INTERACTION WITH COMMD1.
DOI=10.1074/jbc.C300391200; PubMed=12968035 [NCBI, ExPASy, EBI, Israel, Japan]
Tao T.Y.,
Liu F.,
Klomp L.,
Wijmenga C.,
Gitlin J.D.;
"The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.";
J. Biol. Chem. 278:41593-41596(2003).
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[15]
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VARIANTS WD, AND VARIANTS.
PubMed=8533760 [NCBI, ExPASy, EBI, Israel, Japan]
Figus A.,
Angius A.,
Loudianos G.,
Bertini C.,
Dessi V.,
Loi A.,
Deiana M.,
Lovicu M.,
Olla N.,
Sole G.,
de Virgiliis S.,
Lilliu F.,
Farci A.M.G.,
Nurchi A.,
Giacchino R.,
Barabino A.,
Marazzi M.,
Zancan L.,
Greggio N.A., ![]()
Macellini M.,
Solinas A.,
Deplano A.,
Barbera C.,
Devoto M.,
Ozsoylu S.,
Kocak N.,
Akar N.,
Karayalcin S.,
Mokini V.,
Cullufi P.,
Balestrieri A.,
Cao A.,
Pirastu M.;
"Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations.";
Am. J. Hum. Genet. 57:1318-1324(1995).
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[16]
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VARIANTS WD PHE-967; MET-977; ASP-1106; ARG-1153 AND SER-1355.
DOI=10.1006/geno.1996.0564; PubMed=8938442 [NCBI, ExPASy, EBI, Israel, Japan]
Waldenstroem E.,
Lagerkvist A.,
Dahlman T.,
Westermark K.,
Landegren U.;
"Efficient detection of mutations in Wilson disease by manifold sequencing.";
Genomics 37:303-309(1996).
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[17]
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VARIANTS WD.
DOI=10.1007/s004390050275; PubMed=8931691 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G.,
Dessi V.,
Angius A.,
Lovicu M.,
Loi A.,
Deiana M.,
Akar N.,
Vajro P.,
Figus A.,
Cao A.,
Pirastu M.;
"Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients.";
Hum. Genet. 98:640-642(1996).
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[18]
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VARIANTS WD GLN-778 AND LEU-778.
PubMed=8782057 [NCBI, ExPASy, EBI, Israel, Japan]
Chuang L.-M.,
Wu H.-P.,
Jang M.-H.,
Wang T.-R.,
Sue W.-C.,
Lin B.J.,
Cox D.W.,
Tai T.-Y.;
"High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.";
J. Med. Genet. 33:521-523(1996).
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[19]
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VARIANTS WD.
PubMed=9311736 [NCBI, ExPASy, EBI, Israel, Japan]
Shah A.B.,
Chernov I.,
Zhang H.T.,
Ross B.M.,
Das K.,
Lutsenko S.,
Parano E.,
Pavone L.,
Evgrafov O.,
Ivanova-Smolenskaya I.A.,
Anneren G.,
Westermark K.,
Urrutia F.H.,
Penchaszadeh G.K.,
Sternlieb I.,
Scheinberg I.H.,
Gilliam T.C.,
Petrukhin K.;
"Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.";
Am. J. Hum. Genet. 61:317-328(1997).
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[20]
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VARIANT WD CYS-693.
PubMed=9772425 [NCBI, ExPASy, EBI, Israel, Japan]
Fan Y.,
Yang R.,
Yu L.,
Wu M.,
Shi S.,
Ren M.,
Han Y.,
Hu J.,
Zhao S.;
"Identification of a novel missense mutation in Wilson's disease gene.";
Chin. Med. J. 110:887-890(1997).
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[21]
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VARIANT WD 1285-GLY--ILE-1292 DEL, AND VARIANT VAL-1278.
DOI=10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.3.CO;2-X; PubMed=9222767 [NCBI, ExPASy, EBI, Israel, Japan]
Orru S.,
Thomas G.,
Loizedda A.,
Cox D.W.,
Contu L.;
"24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.";
Hum. Mutat. 10:84-85(1997).
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[22]
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VARIANT WD LYS-1038.
DOI=10.1111/1523-1747.ep12285622; PubMed=8980283 [NCBI, ExPASy, EBI, Israel, Japan]
Kemppainen R.,
Palatsi R.,
Kallioinen M.,
Oikarinen A.;
"A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.";
J. Invest. Dermatol. 108:35-39(1997).
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[23]
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VARIANTS WD ALA-710; CYS-741; ILE-1031 AND ARG-1176.
PubMed=9887381 [NCBI, ExPASy, EBI, Israel, Japan]
Duc H.H.,
Hefter H.,
Stremmel W.,
Castaneda-Guillot C.,
Hernandez Hernandez A.,
Cox D.W.,
Auburger G.;
"His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype.";
Eur. J. Hum. Genet. 6:616-623(1998).
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[24]
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VARIANTS WD ARG-645; ASN-765; GLN-969; ALA-1064; GLN-1069; VAL-1213 AND 1216-VAL-VAL-1217 DEL, AND VARIANTS SER-565; GLY-723; ARG-832 AND ALA-1140.
DOI=10.1002/(SICI)1098-1004(1998)11:2<145::AID-HUMU7>3.3.CO;2-F; PubMed=9482578 [NCBI, ExPASy, EBI, Israel, Japan]
Kalinsky H.,
Funes A.,
Zeldin A.,
Pel-Or Y.,
Korostishevsky M.,
Gershoni-Baruch R.,
Farrer L.A.,
Bonne-Tamir B.;
"Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.";
Hum. Mutat. 11:145-151(1998).
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[25]
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VARIANTS WD LEU-778; VAL-874 AND PHE-1083, AND VARIANTS ARG-832; ILE-864; MET-1109 AND ALA-1140.
DOI=10.1002/(SICI)1098-1004(1998)11:4<275::AID-HUMU4>3.3.CO;2-C; PubMed=9554743 [NCBI, ExPASy, EBI, Israel, Japan]
Kim E.K.,
Yoo O.J.,
Song K.Y.,
Yoo H.W.,
Choi S.Y.,
Cho S.W.,
Hahn S.H.;
"Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.";
Hum. Mutat. 11:275-278(1998).
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[26]
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VARIANTS WD LEU-778; VAL-874; GLY-919; SER-1186; ALA-1267 AND SER-1270.
PubMed=9452121 [NCBI, ExPASy, EBI, Israel, Japan]
Yamaguchi A.,
Matsuura A.,
Arashima S.,
Kikuchi Y.,
Kikuchi K.;
"Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.";
Hum. Mutat. Suppl. 1:S320-S322(1998).
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[27]
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VARIANTS WD VAL-85; SER-492; 608-PHE-ASP-609 DELINS TYR; HIS-642; ARG-645; ILE-665; ARG-691; PHE-747; TRP-778; LEU-840; ASN-918; TRP-919; ASN-921; PRO-933; LEU-992; THR-1003; VAL-1018; TRP-1041; VAL-1089; MET-1146; GLY-1183; THR-1183; MET-1216; ASP-1341 AND SER-1358.
DOI=10.1002/(SICI)1098-1004(1998)12:2<89::AID-HUMU3>3.3.CO;2-7; PubMed=9671269 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G.,
Dessi V.,
Lovicu M.,
Angius A.,
Nurchi A.,
Sturniolo G.C.,
Marcellini M.,
Zancan L.,
Bragetti P.,
Akar N.,
Yagci R.,
Vegnente A.,
Cao A.,
Pirastu M.;
"Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.";
Hum. Mutat. 12:89-94(1998).
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[28]
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VARIANTS WD.
DOI=10.1002/(SICI)1098-1004(1998)12:6<370::AID-HUMU2>3.3.CO;2-J; PubMed=9829905 [NCBI, ExPASy, EBI, Israel, Japan]
Tsai C.-H.,
Tsai F.-J.,
Wu J.-Y.,
Chang J.-G.,
Lee C.-C.,
Lin S.-P.,
Yang C.-F.,
Jong Y.-J.,
Lo M.-C.;
"Mutation analysis of Wilson disease in Taiwan and description of six new mutations.";
Hum. Mutat. 12:370-376(1998).
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[29]
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VARIANT WD PRO-1041.
PubMed=10194254 [NCBI, ExPASy, EBI, Israel, Japan]
Wu Z.,
Wang N.,
Murong S.,
Lin M.;
"Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients.";
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16:91-93(1999).
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[30]
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VARIANTS WD 670-TYR-MET-671 DEL; TYR-985 AND THR-1148.
DOI=10.1002/(SICI)1098-1004(1999)14:1<88::AID-HUMU15>3.0.CO;2-H; PubMed=10447265 [NCBI, ExPASy, EBI, Israel, Japan]
Haas R.,
Gutierrez-Rivero B.,
Knoche J.,
Boeker K.,
Manns M.P.,
Schmidt H.H.-J.;
"Mutation analysis in patients with Wilson disease: identification of 4 novel mutations.";
Hum. Mutat. 14:88-88(1999).
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[31]
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VARIANTS WD.
DOI=10.1002/(SICI)1098-1004(199910)14:4<294::AID-HUMU4>3.0.CO;2-9; PubMed=10502776 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G.,
Dessi V.,
Lovicu M.,
Angius A.,
Figus A.,
Lilliu F.,
De Virgiliis S.,
Nurchi A.M.,
Deplano A.,
Moi P.,
Pirastu M.,
Cao A.;
"Molecular characterization of Wilson disease in the Sardinian population -- evidence of a founder effect.";
Hum. Mutat. 14:294-303(1999).
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[32]
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VARIANTS WD.
DOI=10.1002/(SICI)1098-1004(199910)14:4<304::AID-HUMU5>3.0.CO;2-W; PubMed=10502777 [NCBI, ExPASy, EBI, Israel, Japan]
Curtis D.,
Durkie M.,
Balac P.,
Sheard D.,
Goodeve A.,
Peake I.,
Quarrell O.,
Tanner S.;
"A study of Wilson disease mutations in Britain.";
Hum. Mutat. 14:304-311(1999).
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[33]
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VARIANT WD GLN-1069.
PubMed=10051024 [NCBI, ExPASy, EBI, Israel, Japan]
Ivanova-Smolenskaya I.A.,
Ovchinnikov I.V.,
Karabanov A.V.,
Deineko N.L.,
Poleshchuk V.V.,
Markova E.D.,
Illarioshkin S.N.;
"The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.";
J. Med. Genet. 36:174-174(1999).
|
[34]
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VARIANTS WD SER-710; ARG-711; LEU-840; VAL-874; GLN-969; VAL-1003; TRP-1041; PRO-1041; GLU-1061; VAL-1063; GLY-1068; GLN-1069; GLU-1089; PHE-1104; HIS-1151; THR-1169; LYS-1173; VAL-1222; PHE-1262; VAL-1327; PHE-1363 AND MET-1434, AND VARIANTS ARG-1207 AND ILE-1297.
PubMed=10544227 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G.,
Dessi V.,
Lovicu M.,
Angius A.,
Altuntas B.,
Giacchino R.,
Marazzi M.,
Marcellini M.,
Sartorelli M.R.,
Sturniolo G.C.,
Kocak N.,
Yuce A.,
Akar N.,
Pirastu M.,
Cao A.;
"Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.";
J. Med. Genet. 36:833-836(1999).
|
[35]
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VARIANTS WD ILE-769; LEU-778; TRP-778; VAL-874; GLY-919; THR-1003; PHE-1083; SER-1186; ALA-1267; SER-1270; THR-1336 AND PRO-1373, AND VARIANTS ALA-406; LEU-456; ARG-952 AND ALA-1140.
DOI=10.1002/(SICI)1098-1004(200005)15:5<454::AID-HUMU7>3.3.CO;2-A; PubMed=10790207 [NCBI, ExPASy, EBI, Israel, Japan]
Okada T.,
Shiono Y.,
Hayashi H.,
Satoh H.,
Sawada T.,
Suzuki A.,
Takeda Y.,
Yano M.,
Michitaka K.,
Onji M.,
Mabuchi H.;
"Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.";
Hum. Mutat. 15:454-462(2000).
|
[36]
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VARIANT WD GLY-1279.
DOI=10.1007/s100380070015; PubMed=11043508 [NCBI, ExPASy, EBI, Israel, Japan]
Lee C.C.,
Wu J.Y.,
Tsai F.J.,
Kodama H.,
Abe T.,
Yang C.F.,
Tsai C.H.;
"Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association.";
J. Hum. Genet. 45:275-279(2000).
|
[37]
|
VARIANTS WD LEU-760 AND PRO-1305.
DOI=10.1002/1098-1004(200102)17:2<156::AID-HUMU18>3.0.CO;2-0; PubMed=11180609 [NCBI, ExPASy, EBI, Israel, Japan]
Genschel J.,
Czlonkowska A.,
Sommer G.,
Buettner C.,
Bochow B.,
Lochs H.,
Schmidt H.;
"Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease.";
Hum. Mutat. 17:156-156(2001).
|
[38]
|
VARIANTS WD TRP-616; ALA-710; SER-710; LEU-760; ASN-765; VAL-769; GLN-969; LEU-992; GLN-1069 AND SER-1270, AND VARIANTS ALA-406; LEU-456 AND ARG-832.
DOI=10.1016/S0168-8278(01)00219-7; PubMed=11690702 [NCBI, ExPASy, EBI, Israel, Japan]
Caca K.,
Ferenci P.,
Kuehn H.-J.,
Polli C.,
Willgerodt H.,
Kunath B.,
Hermann W.,
Moessner J.,
Berr F.;
"High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.";
J. Hepatol. 35:575-581(2001).
|
[39]
|
VARIANTS WD TRP-778; ARG-898; GLN-1069; THR-1102 AND ARG-1266.
DOI=10.1006/mgme.2000.3143; PubMed=11243728 [NCBI, ExPASy, EBI, Israel, Japan]
Butler P.,
McIntyre N.,
Mistry P.K.;
"Molecular diagnosis of Wilson disease.";
Mol. Genet. Metab. 72:223-230(2001).
|
[40]
|
VARIANTS WD HIS-768; LEU-778; VAL-874; PHE-1083; SER-1168; ILE-1255; ALA-1267 AND SER-1270.
DOI=10.1097/00125817-200211001-00009; PubMed=12544487 [NCBI, ExPASy, EBI, Israel, Japan]
Yoo H.-W.;
"Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.";
Genet. Med. 4:43S-48S(2002).
|
[41]
|
VARIANTS WD PRO-721 AND GLY-1183.
DOI=10.1002/humu.10121; PubMed=12325021 [NCBI, ExPASy, EBI, Israel, Japan]
Loudianos G.,
Lovicu M.,
Dessi V.,
Tzetis M.,
Kanavakis E.,
Zancan L.,
Zelante L.,
Galvez-Galvez C.,
Cao A.;
"Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B.";
Hum. Mutat. 20:260-266(2002).
|
[42]
|
VARIANTS WD VAL-85; GLY-765; LEU-778; MET-890; GLY-919; MET-935; TYR-975; LEU-992; ARG-1098; THR-1148; LYS-1173 AND ASN-1248, AND VARIANTS ASP-14; ALA-406; LEU-456; ARG-832; ARG-952; ALA-1140; ASN-1143 AND SER-1245.
DOI=10.1046/j.1399-0004.2003.00179.x; PubMed=14986826 [NCBI, ExPASy, EBI, Israel, Japan]
Gu Y.-H.,
Kodama H.,
Du S.-L.,
Gu Q.-J.,
Sun H.-J.,
Ushijima H.;
"Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.";
Clin. Genet. 64:479-484(2003).
|
[43]
|
VARIANTS WD SER-41; GLY-949; LEU-1094; PRO-1232 AND ARG-1373.
DOI=10.1002/humu.9227; PubMed=15024742 [NCBI, ExPASy, EBI, Israel, Japan]
Deguti M.M.,
Genschel J.,
Cancado E.L.R.,
Barbosa E.R.,
Bochow B.,
Mucenic M.,
Porta G.,
Lochs H.,
Carrilho F.J.,
Schmidt H.H.-J.;
"Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.";
Hum. Mutat. 23:398-398(2004).
|
[44]
|
VARIANTS WD THR-1148 AND ARG-1176.
DOI=10.1046/j.1529-8817.2005.00171.x; PubMed=15845031 [NCBI, ExPASy, EBI, Israel, Japan]
Dedoussis G.V.Z.,
Genschel J.,
Sialvera T.-E.,
Bochow B.,
Manolaki N.,
Manios Y.,
Tsafantakis E.,
Schmidt H.;
"Wilson disease: high prevalence in a mountainous area of Crete.";
Ann. Hum. Genet. 69:268-274(2005).
|
[45]
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VARIANTS WD ARG-645; LEU-690; ARG-869; SER-943; MET-977; GLU-1061; GLN-1069; SER-1099; MET-1216 AND PRO-1232, AND VARIANTS ALA-406; LEU-456; ARG-832; ARG-952 AND ALA-1140.
DOI=10.1111/j.1399-0004.2005.00439.x; PubMed=15952988 [NCBI, ExPASy, EBI, Israel, Japan]
Margarit E.,
Bach V.,
Gomez D.,
Bruguera M.,
Jara P.,
Queralt R.,
Ballesta F.;
"Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene.";
Clin. Genet. 68:61-68(2005).
|
[46]
|
VARIANTS WD SER-641; SER-710; ARG-737; GLY-778; GLU-918; GLN-969; MET-977; VAL-1018; SER-1033; TRP-1041; VAL-1063; LYS-1064; GLN-1069; THR-1102; ASP-1111; THR-1148; ARG-1176; SER-1186; ASN-1271; LEU-1273; PRO-1305; ASP-1341 AND CYS-1355, AND VARIANTS LEU-456; ARG-832; GLY-875; ARG-952 AND ALA-1140.
DOI=10.1016/j.ymgme.2005.05.004; PubMed=15967699 [NCBI, ExPASy, EBI, Israel, Japan]
Vrabelova S.,
Letocha O.,
Borsky M.,
Kozak L.;
"Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.";
Mol. Genet. Metab. 86:277-285(2005).
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