[1]
|
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
DOI=10.1093/nar/14.6.2511; PubMed=3515319 [NCBI, ExPASy, EBI, Israel, Japan]
Persico M.G.,
Viglietto G.,
Martini G.,
Toniolo D.,
Paonessa G.,
Moscatelli C.,
Dono R.,
Vulliamy T.J.,
Luzzatto L.,
D'Urso M.;
"Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region.";
Nucleic Acids Res. 14:2511-2522(1986).
|
[2]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT).
PubMed=2428611 [NCBI, ExPASy, EBI, Israel, Japan]
Martini G.,
Toniolo D.,
Vulliamy T.,
Luzzatto L.,
Dono R.,
Viglietto G.,
Paonessa G.,
D'Urso M.,
Persico M.G.;
"Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase.";
EMBO J. 5:1849-1855(1986).
|
[3]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT).
DOI=10.1016/0888-7543(91)90465-Q; PubMed=1889820 [NCBI, ExPASy, EBI, Israel, Japan]
Chen E.Y.,
Cheng A.,
Lee A.,
Kuang W.,
Hillier L.,
Green P.,
Schlessinger D.,
Ciccodicola A.,
D'Urso M.;
"Sequence of human glucose-6-phosphate dehydrogenase cloned in plasmids and a yeast artificial chromosome.";
Genomics 10:792-800(1991).
|
[4]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM SHORT).
DOI=10.1093/hmg/5.5.659; PubMed=8733135 [NCBI, ExPASy, EBI, Israel, Japan]
Chen E.Y.,
Zollo M.,
Mazzarella R.A.,
Ciccodicola A.,
Chen C.-N.,
Zuo L.,
Heiner C.,
Burough F.W.,
Ripetto M.,
Schlessinger D.,
D'Urso M.;
"Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.";
Hum. Mol. Genet. 5:659-668(1996).
|
[5]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
Ross M.T.,
Grafham D.V.,
Coffey A.J.,
Scherer S.,
McLay K.,
Muzny D.,
Platzer M.,
Howell G.R.,
Burrows C.,
Bird C.P.,
Frankish A.,
Lovell F.L.,
Howe K.L.,
Ashurst J.L.,
Fulton R.S.,
Sudbrak R.,
Wen G.,
Jones M.C.,
Hurles M.E., ![]()
Andrews T.D.,
Scott C.E.,
Searle S.,
Ramser J.,
Whittaker A.,
Deadman R.,
Carter N.P.,
Hunt S.E.,
Chen R.,
Cree A.,
Gunaratne P.,
Havlak P.,
Hodgson A.,
Metzker M.L.,
Richards S.,
Scott G.,
Steffen D.,
Sodergren E.,
Wheeler D.A.,
Worley K.C.,
Ainscough R.,
Ambrose K.D.,
Ansari-Lari M.A.,
Aradhya S.,
Ashwell R.I.,
Babbage A.K.,
Bagguley C.L.,
Ballabio A.,
Banerjee R.,
Barker G.E.,
Barlow K.F.,
Barrett I.P.,
Bates K.N.,
Beare D.M.,
Beasley H.,
Beasley O.,
Beck A.,
Bethel G.,
Blechschmidt K.,
Brady N.,
Bray-Allen S.,
Bridgeman A.M.,
Brown A.J.,
Brown M.J.,
Bonnin D.,
Bruford E.A.,
Buhay C.,
Burch P.,
Burford D.,
Burgess J.,
Burrill W.,
Burton J.,
Bye J.M.,
Carder C.,
Carrel L.,
Chako J.,
Chapman J.C.,
Chavez D.,
Chen E.,
Chen G.,
Chen Y.,
Chen Z.,
Chinault C.,
Ciccodicola A.,
Clark S.Y.,
Clarke G.,
Clee C.M.,
Clegg S.,
Clerc-Blankenburg K.,
Clifford K.,
Cobley V.,
Cole C.G.,
Conquer J.S.,
Corby N.,
Connor R.E.,
David R.,
Davies J.,
Davis C.,
Davis J.,
Delgado O.,
Deshazo D.,
Dhami P.,
Ding Y.,
Dinh H.,
Dodsworth S.,
Draper H.,
Dugan-Rocha S.,
Dunham A.,
Dunn M.,
Durbin K.J.,
Dutta I.,
Eades T.,
Ellwood M.,
Emery-Cohen A.,
Errington H.,
Evans K.L.,
Faulkner L.,
Francis F.,
Frankland J.,
Fraser A.E.,
Galgoczy P.,
Gilbert J.,
Gill R.,
Gloeckner G.,
Gregory S.G.,
Gribble S.,
Griffiths C.,
Grocock R.,
Gu Y.,
Gwilliam R.,
Hamilton C.,
Hart E.A.,
Hawes A.,
Heath P.D.,
Heitmann K.,
Hennig S.,
Hernandez J.,
Hinzmann B.,
Ho S.,
Hoffs M.,
Howden P.J.,
Huckle E.J.,
Hume J.,
Hunt P.J.,
Hunt A.R.,
Isherwood J.,
Jacob L.,
Johnson D.,
Jones S.,
de Jong P.J.,
Joseph S.S.,
Keenan S.,
Kelly S.,
Kershaw J.K.,
Khan Z.,
Kioschis P.,
Klages S.,
Knights A.J.,
Kosiura A.,
Kovar-Smith C.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leversha M.,
Lewis L.,
Liu W.,
Lloyd C.,
Lloyd D.M.,
Loulseged H.,
Loveland J.E.,
Lovell J.D.,
Lozado R.,
Lu J.,
Lyne R.,
Ma J.,
Maheshwari M.,
Matthews L.H.,
McDowall J.,
McLaren S.,
McMurray A.,
Meidl P.,
Meitinger T.,
Milne S.,
Miner G.,
Mistry S.L.,
Morgan M.,
Morris S.,
Mueller I.,
Mullikin J.C.,
Nguyen N.,
Nordsiek G.,
Nyakatura G.,
O'dell C.N.,
Okwuonu G.,
Palmer S.,
Pandian R.,
Parker D.,
Parrish J.,
Pasternak S.,
Patel D.,
Pearce A.V.,
Pearson D.M.,
Pelan S.E.,
Perez L.,
Porter K.M.,
Ramsey Y.,
Reichwald K.,
Rhodes S.,
Ridler K.A.,
Schlessinger D.,
Schueler M.G.,
Sehra H.K.,
Shaw-Smith C.,
Shen H.,
Sheridan E.M.,
Shownkeen R.,
Skuce C.D.,
Smith M.L.,
Sotheran E.C.,
Steingruber H.E.,
Steward C.A.,
Storey R.,
Swann R.M.,
Swarbreck D.,
Tabor P.E.,
Taudien S.,
Taylor T.,
Teague B.,
Thomas K.,
Thorpe A.,
Timms K.,
Tracey A.,
Trevanion S.,
Tromans A.C.,
d'Urso M.,
Verduzco D.,
Villasana D.,
Waldron L.,
Wall M.,
Wang Q.,
Warren J.,
Warry G.L.,
Wei X.,
West A.,
Whitehead S.L.,
Whiteley M.N.,
Wilkinson J.E.,
Willey D.L.,
Williams G.,
Williams L.,
Williamson A.,
Williamson H.,
Wilming L.,
Woodmansey R.L.,
Wray P.W.,
Yen J.,
Zhang J.,
Zhou J.,
Zoghbi H.,
Zorilla S.,
Buck D.,
Reinhardt R.,
Poustka A.,
Rosenthal A.,
Lehrach H.,
Meindl A.,
Minx P.J.,
Hillier L.W.,
Willard H.F.,
Wilson R.K.,
Waterston R.H.,
Rice C.M.,
Vaudin M.,
Coulson A.,
Nelson D.L.,
Weinstock G.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Gibbs R.A.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
|
[6]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
TISSUE=Lung;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
|
[7]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 1-71.
DOI=10.1016/0092-8674(89)90440-6; PubMed=2758468 [NCBI, ExPASy, EBI, Israel, Japan]
Kanno H.,
Huang I.Y.,
Kan Y.W.,
Yoshida A.;
"Two structural genes on different chromosomes are required for encoding the major subunit of human red cell glucose-6-phosphate dehydrogenase.";
Cell 58:595-606(1989).
|
[8]
|
NUCLEOTIDE SEQUENCE OF 1-71.
PubMed=8466644 [NCBI, ExPASy, EBI, Israel, Japan]
Kanno H.,
Kondoh T.,
Yoshida A.;
"5' structure and expression of human glucose-6-phosphate dehydrogenase mRNA.";
DNA Cell Biol. 12:209-215(1993).
|
[9]
|
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-41.
DOI=10.1016/0378-1119(91)90078-P; PubMed=1874446 [NCBI, ExPASy, EBI, Israel, Japan]
Toniolo D.,
Filippi M.,
Dono R.,
Lettieri T.,
Martini G.;
"The CpG island in the 5' region of the G6PD gene of man and mouse.";
Gene 102:197-203(1991).
|
[10]
|
PROTEIN SEQUENCE OF 2-9.
TISSUE=Platelet;
DOI=10.1038/nbt810; PubMed=12665801 [NCBI, ExPASy, EBI, Israel, Japan]
Gevaert K.,
Goethals M.,
Martens L.,
Van Damme J.,
Staes A.,
Thomas G.R.,
Vandekerckhove J.;
"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.";
Nat. Biotechnol. 21:566-569(2003).
|
[11]
|
NUCLEOTIDE SEQUENCE OF 41-515 (ISOFORM SHORT), AND VARIANTS MET-68 AND ASP-126.
PubMed=12524354 [NCBI, ExPASy, EBI, Israel, Japan]
Saunders M.A.,
Hammer M.F.,
Nachman M.W.;
"Nucleotide variability at G6pd and the signature of malarial selection in humans.";
Genetics 162:1849-1861(2002).
|
[12]
|
NUCLEOTIDE SEQUENCE [MRNA] OF 154-515 (ISOFORM SHORT).
PubMed=3012556 [NCBI, ExPASy, EBI, Israel, Japan]
Takizawa T.,
Huang I.-Y.,
Ikuta T.,
Yoshida A.;
"Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning.";
Proc. Natl. Acad. Sci. U.S.A. 83:4157-4161(1986).
|
[13]
|
PROTEIN SEQUENCE OF 199-215.
PubMed=3126064 [NCBI, ExPASy, EBI, Israel, Japan]
Camardella L.,
Caruso C.,
Rutigliano B.,
Romano M.,
di Prisco G.,
Descalzi-Cancedda F.;
"Human erythrocyte glucose-6-phosphate dehydrogenase. Identification of a reactive lysyl residue labelled with pyridoxal 5'-phosphate.";
Eur. J. Biochem. 171:485-489(1988).
|
[14]
|
PROTEIN SEQUENCE OF 509-515.
DOI=10.1016/0006-291X(84)91105-7; PubMed=6696761 [NCBI, ExPASy, EBI, Israel, Japan]
Descalzi-Cancedda F.,
Caruso C.,
Romano M.,
di Prisco G.,
Camardella L.;
"Amino acid sequence of the carboxy-terminal end of human erythrocyte glucose-6-phosphate dehydrogenase.";
Biochem. Biophys. Res. Commun. 118:332-338(1984).
|
[15]
|
ALTERNATIVE SPLICING.
PubMed=2910917 [NCBI, ExPASy, EBI, Israel, Japan]
Hirono A.,
Beutler E.;
"Alternative splicing of human glucose-6-phosphate dehydrogenase messenger RNA in different tissues.";
J. Clin. Invest. 83:343-346(1989).
|
[16]
|
ACETYLATION AT ALA-2, AND MASS SPECTROMETRY.
DOI=10.1006/bbrc.1995.1192; PubMed=7857286 [NCBI, ExPASy, EBI, Israel, Japan]
Camardella L.,
Damonte G.,
Carratore V.,
Benatti U.,
Tonetti M.,
Moneti G.;
"Glucose 6-phosphate dehydrogenase from human erythrocytes: identification of N-acetyl-alanine at the N-terminus of the mature protein.";
Biochem. Biophys. Res. Commun. 207:331-338(1995).
|
[17]
|
REVIEW ON VARIANTS.
PubMed=8364584 [NCBI, ExPASy, EBI, Israel, Japan]
Vulliamy T.,
Beutler E.,
Luzzatto L.;
"Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.";
Hum. Mutat. 2:159-167(1993).
|
[18]
|
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-507, AND MASS SPECTROMETRY.
TISSUE=Epithelium;
DOI=10.1074/mcp.M500089-MCP200; PubMed=15951569 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Y.,
Wolf-Yadlin A.,
Ross P.L.,
Pappin D.J.,
Rush J.,
Lauffenburger D.A.,
White F.M.;
"Time-resolved mass spectrometry of tyrosine phosphorylation sites in the epidermal growth factor receptor signaling network reveals dynamic modules.";
Mol. Cell. Proteomics 4:1240-1250(2005).
|
[19]
|
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-401, AND MASS SPECTROMETRY.
DOI=10.1038/nbt1046; PubMed=15592455 [NCBI, ExPASy, EBI, Israel, Japan]
Rush J.,
Moritz A.,
Lee K.A.,
Guo A.,
Goss V.L.,
Spek E.J.,
Zhang H.,
Zha X.-M.,
Polakiewicz R.D.,
Comb M.J.;
"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.";
Nat. Biotechnol. 23:94-101(2005).
|
[20]
|
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-401; TYR-503 AND TYR-507, AND MASS SPECTROMETRY.
DOI=10.1016/j.cell.2007.11.025; PubMed=18083107 [NCBI, ExPASy, EBI, Israel, Japan]
Rikova K.,
Guo A.,
Zeng Q.,
Possemato A.,
Yu J.,
Haack H.,
Nardone J.,
Lee K.,
Reeves C.,
Li Y.,
Hu Y.,
Tan Z.,
Stokes M.,
Sullivan L.,
Mitchell J.,
Wetzel R.,
Macneill J.,
Ren J.M.,
Yuan J., ![]()
Bakalarski C.E.,
Villen J.,
Kornhauser J.M.,
Smith B.,
Li D.,
Zhou X.,
Gygi S.P.,
Gu T.-L.,
Polakiewicz R.D.,
Rush J.,
Comb M.J.;
"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.";
Cell 131:1190-1203(2007).
|
[21]
|
X-RAY CRYSTALLOGRAPHY (3.0 ANGSTROMS) OF VARIANT CANTON IN COMPLEX WITH NADP, AND HOMOTETRAMERIZATION.
DOI=10.1016/S0969-2126(00)00104-0; PubMed=10745013 [NCBI, ExPASy, EBI, Israel, Japan]
Au S.W.,
Gover S.,
Lam V.M.,
Adams M.J.;
"Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.";
Structure 8:293-303(2000).
|
[22]
|
REVIEW ON VARIANTS.
DOI=10.1002/humu.10036; PubMed=11857737 [NCBI, ExPASy, EBI, Israel, Japan]
Kwok C.J.,
Martin A.C.,
Au S.W.,
Lam V.M.;
"G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.";
Hum. Mutat. 19:217-224(2002).
|
[23]
|
VARIANT A(+) ASP-126.
DOI=10.1016/0888-7543(87)90048-6; PubMed=3446582 [NCBI, ExPASy, EBI, Israel, Japan]
Takizawa T.,
Yoneyama Y.,
Miwa S.,
Yoshida A.;
"A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+).";
Genomics 1:228-231(1987).
|
[24]
|
VARIANT A(-) MET-68.
PubMed=2836867 [NCBI, ExPASy, EBI, Israel, Japan]
Hirono A.,
Beutler E.;
"Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-).";
Proc. Natl. Acad. Sci. U.S.A. 85:3951-3954(1988).
|
[25]
|
VARIANTS.
PubMed=3393536 [NCBI, ExPASy, EBI, Israel, Japan]
Vulliamy T.J.,
D'Urso M.,
Battistuzzi G.,
Estrada M.,
Foulkes N.S.,
Martini G.,
Calabro V.,
Poggi V.,
Giordano R.,
Town M.,
Luzzatto L.,
Persico M.G.;
"Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.";
Proc. Natl. Acad. Sci. U.S.A. 85:5171-5175(1988).
|
[26]
|
VARIANTS GLN-227 AND SER-353, AND VARIANTS CNSHA CYS-387; LEU-394; ASP-410 AND PRO-439.
PubMed=1611091 [NCBI, ExPASy, EBI, Israel, Japan]
Beutler E.,
Westwood B.,
Prchal J.T.,
Vaca C.S.,
Bartsocas C.S.,
Baronciani L.;
"New glucose-6-phosphate dehydrogenase mutations from various ethnic groups.";
Blood 80:255-256(1992).
|
[27]
|
VARIANTS SASSARI/CAGLIARI PHE-188 AND SEATTLE HIS-282.
PubMed=2912069 [NCBI, ExPASy, EBI, Israel, Japan]
de Vita G.,
Alcalay M.,
Sampietro M.,
Cappelini M.D.,
Fiorelli G.,
Toniolo D.;
"Two point mutations are responsible for G6PD polymorphism in Sardinia.";
Am. J. Hum. Genet. 44:233-240(1989).
|
[28]
|
VARIANT CSNA ARG-32.
DOI=10.1093/nar/19.21.6056; PubMed=1945893 [NCBI, ExPASy, EBI, Israel, Japan]
Chao L.T.,
Du C.S.,
Louie E.,
Zuo L.,
Chen E.,
Lubin B.,
Chiu D.T.;
"A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese.";
Nucleic Acids Res. 19:6056-6056(1991).
|
[29]
|
VARIANT NASHVILLE/ANAHEIM HIS-393.
PubMed=1536798 [NCBI, ExPASy, EBI, Israel, Japan]
Filosa S.,
Calabro V.,
Vallone D.,
Poggi V.,
Mason P.,
Pagnini D.,
Alfinito F.,
Rotoli B.,
Martini G.,
Luzzatto L.,
Battistuzzi G.;
"Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393arg-to-his) with abnormal K(m) G6P and marked in vivo instability.";
Br. J. Haematol. 80:111-116(1992).
|
[30]
|
VARIANT CHINESE-2/MAEWO CYS-454.
DOI=10.1093/hmg/1.3.205; PubMed=1303180 [NCBI, ExPASy, EBI, Israel, Japan]
Perng L.-I.,
Chiou S.-S.,
Liu T.-C.,
Chang J.-G.;
"A novel C to T substitution at nucleotide 1360 of cDNA which abolishes a natural Hha I site accounts for a new G6PD deficiency gene in Chinese.";
Hum. Mol. Genet. 1:205-205(1992).
|
[31]
|
VARIANT KALYAN/KERALA LYS-317.
DOI=10.1093/hmg/1.3.209; PubMed=1303182 [NCBI, ExPASy, EBI, Israel, Japan]
Ahluwalia A.,
Corcoran C.M.,
Vulliamy T.J.,
Ishwad C.S.,
Naidu J.M.,
Stevens D.J.,
Mason P.J.,
Luzzatto L.;
"G6PD Kalyan and G6PD Kerala; two deficient variants in India caused by the same 317 Glu-->Lys mutation.";
Hum. Mol. Genet. 1:209-210(1992).
|
[32]
|
VARIANT AURES THR-48.
DOI=10.1093/hmg/2.1.81; PubMed=8490627 [NCBI, ExPASy, EBI, Israel, Japan]
Nafa K.,
Reghis A.,
Osmani N.,
Baghli L.,
Benabadji M.,
Kaplan J.-C.,
Vulliamy T.J.,
Luzzatto L.;
"G6PD Aures: a new mutation (48 Ile-->Thr) causing mild G6PD deficiency is associated with favism.";
Hum. Mol. Genet. 2:81-82(1993).
|
[33]
|
VARIANT SHINSHU GLY-176.
PubMed=8193373 [NCBI, ExPASy, EBI, Israel, Japan]
Hirono A.,
Miwa S.,
Fujii H.,
Ishida F.,
Yamada K.,
Kubota K.;
"Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis.";
Blood 83:3363-3368(1994).
|
[34]
|
VARIANT BARI LEU-396.
DOI=10.1007/BF00211027; PubMed=7959695 [NCBI, ExPASy, EBI, Israel, Japan]
Filosa S.,
Cai W.,
Galanello R.,
Cao A.,
de Mattia D.,
Schettini F.,
Martini G.;
"A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia.";
Hum. Genet. 94:560-562(1994).
|
[35]
|
VARIANTS NAMORU; VANUA LAVA; NAONE AND UNION.
PubMed=7825590 [NCBI, ExPASy, EBI, Israel, Japan]
Ganczakowski M.,
Town M.,
Bowden D.K.,
Vulliamy T.J.,
Kaneko A.,
Clegg J.B.,
Weatherall D.J.,
Luzzatto L.;
"Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific).";
Am. J. Hum. Genet. 56:294-301(1995).
|
[36]
|
VARIANT ORISSA GLY-44.
PubMed=8533762 [NCBI, ExPASy, EBI, Israel, Japan]
Kaeda J.S.,
Chhotray G.P.,
Ranjit M.R.,
Bautista J.M.,
Reddy P.H.,
Stevens D.,
Naidu J.M.,
Britt R.P.,
Vulliamy T.J.,
Luzzatto L.,
Mason P.J.;
"A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India.";
Am. J. Hum. Genet. 57:1335-1341(1995).
|
[37]
|
VARIANTS SWANSEA PRO-75; PLYMOUTH ASP-163; CORUM LYS-274 AND WEXHAM PHE-278.
PubMed=7858267 [NCBI, ExPASy, EBI, Israel, Japan]
Mason P.J.,
Sonati M.F.,
Macdonald D.,
Lanza C.,
Busutil D.,
Town M.,
Corcoran C.M.,
Kaeda J.S.,
Stevens D.J.,
Al-Ismail S.,
Altay C.,
Hatton C.,
Lewis D.S.,
McMullin M.F.,
Meloni T.,
Paul B.,
Pippard M.,
Prentice A.G.,
Vulliamy T.J.,
Luzzatto L.;
"New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia.";
Blood 85:1377-1380(1995).
|
[38]
|
VARIANTS MOUNT SINAI ASP-126 AND CYS-387.
PubMed=9452072 [NCBI, ExPASy, EBI, Israel, Japan]
Vlachos A.,
Westwood B.,
Lipton J.M.,
Beutler E.;
"G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D).";
Hum. Mutat. Suppl. 1:S154-S155(1998).
|
[39]
|
VARIANT SINNAI LEU-12.
DOI=10.1002/(SICI)1098-1004(1998)12:1<72::AID-HUMU19>3.3.CO;2-K; PubMed=10627140 [NCBI, ExPASy, EBI, Israel, Japan]
Galanello R.,
Loi D.,
Sollaino C.,
Dessi S.,
Cao A.,
Melis M.A.;
"A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G->T).";
Hum. Mutat. 12:72-73(1998).
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[40]
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VARIANT REHOVOT HIS-322.
DOI=10.1006/bcmd.2000.0334; PubMed=11112389 [NCBI, ExPASy, EBI, Israel, Japan]
Iancovici-Kidon M.,
Sthoeger D.,
Abrahamov A.,
Volach B.,
Beutler E.,
Gelbart T.,
Barak Y.;
"A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD 'Rehovot') in a Jewish Ethiopian family with variable phenotypes.";
Blood Cells Mol. Dis. 26:567-571(2000).
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