[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Osteosarcoma;
PubMed=3532105 [NCBI, ExPASy, EBI, Israel, Japan]
Weiss M.J.,
Henthorn P.S.,
Lafferty M.A.,
Slaughter C.,
Raducha M.,
Harris H.;
"Isolation and characterization of a cDNA encoding a human liver/bone/kidney-type alkaline phosphatase.";
Proc. Natl. Acad. Sci. U.S.A. 83:7182-7186(1986).
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[2]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
TISSUE=Osteosarcoma;
PubMed=3165380 [NCBI, ExPASy, EBI, Israel, Japan]
Weiss M.J.,
Ray K.,
Henthorn P.S.,
Lamb B.,
Kadesch T.,
Harris H.;
"Structure of the human liver/bone/kidney alkaline phosphatase gene.";
J. Biol. Chem. 263:12002-12010(1988).
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[3]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT HIS-263.
TISSUE=Liver;
DOI=10.1093/nar/17.5.2129; PubMed=2928120 [NCBI, ExPASy, EBI, Israel, Japan]
Kishi F.,
Matsuura S.,
Kajii T.;
"Nucleotide sequence of the human liver-type alkaline phosphatase cDNA.";
Nucleic Acids Res. 17:2129-2129(1989).
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[4]
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NUCLEOTIDE SEQUENCE [MRNA], AND VARIANT HYPOPHOSPHATASIA PHE-289.
DOI=10.1007/s100380050061; PubMed=9747027 [NCBI, ExPASy, EBI, Israel, Japan]
Sugimoto N.,
Iwamoto S.,
Hoshino Y.,
Kajii E.;
"A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.";
J. Hum. Genet. 43:160-164(1998).
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[5]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT HIS-152.
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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[6]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature04727; PubMed=16710414 [NCBI, ExPASy, EBI, Israel, Japan]
Gregory S.G.,
Barlow K.F.,
McLay K.E.,
Kaul R.,
Swarbreck D.,
Dunham A.,
Scott C.E.,
Howe K.L.,
Woodfine K.,
Spencer C.C.A.,
Jones M.C.,
Gillson C.,
Searle S.,
Zhou Y.,
Kokocinski F.,
McDonald L.,
Evans R.,
Phillips K.,
Atkinson A., ![]()
Cooper R.,
Jones C.,
Hall R.E.,
Andrews T.D.,
Lloyd C.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Anderson F.,
Andrew R.W.,
Ashwell R.I.S.,
Aubin K.,
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Beasley H.,
Bethel G.,
Bird C.P.,
Bray-Allen S.,
Brown J.Y.,
Brown A.J.,
Buckley D.,
Burton J.,
Bye J.,
Carder C.,
Chapman J.C.,
Clark S.Y.,
Clarke G.,
Clee C.,
Cobley V.,
Collier R.E.,
Corby N.,
Coville G.J.,
Davies J.,
Deadman R.,
Dunn M.,
Earthrowl M.,
Ellington A.G.,
Errington H.,
Frankish A.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Gay L.,
Ghori M.R.J.,
Gibson R.,
Gilby L.M.,
Gillett W.,
Glithero R.J.,
Grafham D.V.,
Griffiths C.,
Griffiths-Jones S.,
Grocock R.,
Hammond S.,
Harrison E.S.I.,
Hart E.,
Haugen E.,
Heath P.D.,
Holmes S.,
Holt K.,
Howden P.J.,
Hunt A.R.,
Hunt S.E.,
Hunter G.,
Isherwood J.,
James R.,
Johnson C.,
Johnson D.,
Joy A.,
Kay M.,
Kershaw J.K.,
Kibukawa M.,
Kimberley A.M.,
King A.,
Knights A.J.,
Lad H.,
Laird G.,
Lawlor S.,
Leongamornlert D.A.,
Lloyd D.M.,
Loveland J.,
Lovell J.,
Lush M.J.,
Lyne R.,
Martin S.,
Mashreghi-Mohammadi M.,
Matthews L.,
Matthews N.S.W.,
McLaren S.,
Milne S.,
Mistry S.,
Moore M.J.F.,
Nickerson T.,
O'Dell C.N.,
Oliver K.,
Palmeiri A.,
Palmer S.A.,
Parker A.,
Patel D.,
Pearce A.V.,
Peck A.I.,
Pelan S.,
Phelps K.,
Phillimore B.J.,
Plumb R.,
Rajan J.,
Raymond C.,
Rouse G.,
Saenphimmachak C.,
Sehra H.K.,
Sheridan E.,
Shownkeen R.,
Sims S.,
Skuce C.D.,
Smith M.,
Steward C.,
Subramanian S.,
Sycamore N.,
Tracey A.,
Tromans A.,
Van Helmond Z.,
Wall M.,
Wallis J.M.,
White S.,
Whitehead S.L.,
Wilkinson J.E.,
Willey D.L.,
Williams H.,
Wilming L.,
Wray P.W.,
Wu Z.,
Coulson A.,
Vaudin M.,
Sulston J.E.,
Durbin R.M.,
Hubbard T.,
Wooster R.,
Dunham I.,
Carter N.P.,
McVean G.,
Ross M.T.,
Harrow J.,
Olson M.V.,
Beck S.,
Rogers J.,
Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
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[7]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT HIS-263.
TISSUE=Cerebellum, Lymphoma, and Peripheral nerve;
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).
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[8]
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PROTEIN SEQUENCE OF 18-49.
TISSUE=Liver;
DOI=10.1016/0003-9861(86)90223-7; PubMed=3954357 [NCBI, ExPASy, EBI, Israel, Japan]
Garattini E.,
Hua J.-C.,
Pan Y.C.E.,
Udenfriend S.;
"Human liver alkaline phosphatase, purification and partial sequencing: homology with the placental isozyme.";
Arch. Biochem. Biophys. 245:331-337(1986).
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[9]
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PROTEIN SEQUENCE OF 18-32, AND GLYCOSYLATION.
PubMed=1458595 [NCBI, ExPASy, EBI, Israel, Japan]
Nishihara Y.,
Hayashi Y.,
Adachi T.,
Koyama I.,
Stigbrand T.,
Hirano K.;
"Chemical nature of intestinal-type alkaline phosphatase in human kidney.";
Clin. Chem. 38:2539-2542(1992).
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[10]
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GPI-ANCHOR [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
DOI=10.1074/mcp.M300079-MCP200; PubMed=14517339 [NCBI, ExPASy, EBI, Israel, Japan]
Elortza F.,
Nuehse T.S.,
Foster L.J.,
Stensballe A.,
Peck S.C.,
Jensen O.N.;
"Proteomic analysis of glycosylphosphatidylinositol-anchored membrane proteins.";
Mol. Cell. Proteomics 2:1261-1270(2003).
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[11]
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GPI-ANCHOR [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
DOI=10.1021/pr050419u; PubMed=16602701 [NCBI, ExPASy, EBI, Israel, Japan]
Elortza F.,
Mohammed S.,
Bunkenborg J.,
Foster L.J.,
Nuehse T.S.,
Brodbeck U.,
Peck S.C.,
Jensen O.N.;
"Modification-specific proteomics of plasma membrane proteins: identification and characterization of glycosylphosphatidylinositol-anchored proteins released upon phospholipase D treatment.";
J. Proteome Res. 5:935-943(2006).
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[12]
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VARIANT HYPOPHOSPHATASIA THR-179.
PubMed=3174660 [NCBI, ExPASy, EBI, Israel, Japan]
Weiss M.J.,
Cole D.E.C.,
Ray K.,
Whyte M.P.,
Lafferty M.A.,
Mulivor R.A.,
Harris H.;
"A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.";
Proc. Natl. Acad. Sci. U.S.A. 85:7666-7669(1988).
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[13]
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VARIANTS HYPOPHOSPHATASIA VAL-33; CYS-71; PRO-71; LYS-191; PRO-207; ALA-294; VAL-378 AND HIS-436, AND VARIANT HIS-263.
PubMed=1409720 [NCBI, ExPASy, EBI, Israel, Japan]
Henthorn P.S.,
Raducha M.,
Fedde K.N.,
Lafferty M.A.,
Whyte M.P.;
"Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.";
Proc. Natl. Acad. Sci. U.S.A. 89:9924-9928(1992).
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[14]
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VARIANT HYPOPHOSPHATASIA ASP-334.
DOI=10.1006/geno.1993.1305; PubMed=8406453 [NCBI, ExPASy, EBI, Israel, Japan]
Greenberg C.R.,
Taylor C.L.,
Haworth J.C.,
Seargeant L.E.,
Philipps S.,
Triggs-Raine B.,
Chodirker B.N.;
"A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.";
Genomics 17:215-217(1993).
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[15]
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VARIANT HYPOPHOSPHATASIA LYS-298.
DOI=10.1093/hmg/3.9.1683; PubMed=7833929 [NCBI, ExPASy, EBI, Israel, Japan]
Orimo H.,
Hayashi Z.,
Watanabe A.,
Hirayama T.,
Hirayama T.,
Shimada T.;
"Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.";
Hum. Mol. Genet. 3:1683-1684(1994).
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[16]
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VARIANTS HYPOPHOSPHATASIA LEU-327 AND ARG-456.
DOI=10.1210/jc.81.12.4458; PubMed=8954059 [NCBI, ExPASy, EBI, Israel, Japan]
Ozono K.,
Yamagata M.,
Michigami T.,
Nakajima S.,
Sakai N.,
Cai G.,
Satomura K.,
Yasui N.,
Okada S.,
Nakayama M.;
"Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.";
J. Clin. Endocrinol. Metab. 81:4458-4461(1996).
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[17]
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VARIANTS HYPOPHOSPHATASIA PHE-17; VAL-40; SER-75; ARG-120; ARG-129; ASP-170; TRP-184; LYS-191; TRP-223; LYS-291; ASP-334; PRO-445; CYS-450; SER-473 AND ARG-491, AND VARIANT HIS-263.
DOI=10.1038/sj.ejhg.5200190; PubMed=9781036 [NCBI, ExPASy, EBI, Israel, Japan]
Mornet E.,
Taillandier A.,
Peyramaure S.,
Kaper F.,
Muller F.,
Brenner R.,
Bussiere P.,
Freisinger P.,
Godard J.,
Le Merrer M.,
Oury J.F.,
Plauchu H.,
Puddu R.,
Rival J.M.,
Superti-Furga A.,
Touraine R.L.,
Serre J.L.,
Simon-Bouy B.;
"Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.";
Eur. J. Hum. Genet. 6:308-314(1998).
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[18]
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VARIANTS HYPOPHOSPHATASIA THR-111; THR-177; GLY-191; LEU-327 AND ILE-382.
PubMed=9452105 [NCBI, ExPASy, EBI, Israel, Japan]
Goseki-Sone M.,
Orimo H.,
Iimura T.,
Takagi Y.,
Watanabe H.,
Taketa K.,
Sato S.,
Mayanagi H.,
Shimada T.,
Oida S.;
"Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.";
Hum. Mutat. Suppl. 1:S263-S267(1998).
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[19]
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VARIANTS HYPOPHOSPHATASIA VAL-40; LEU-62; SER-75; THR-111; ARG-120; ARG-129; HIS-136; VAL-162; ASP-170; TYR-171; TRP-184; LYS-191; TRP-223; VAL-249; LYS-291; VAL-306; ASP-334; CYS-391; PRO-445; CYS-450; SER-473; LYS-476 AND ARG-491, 3D-STRUCTURE MODELING, AND CHARACTERIZATION OF VARIANTS.
DOI=10.1093/hmg/8.6.1039; PubMed=10332035 [NCBI, ExPASy, EBI, Israel, Japan]
Zurutuza L.,
Muller F.,
Gibrat J.F.,
Taillandier A.,
Simon-Bouy B.,
Serre J.L.,
Mornet E.;
"Correlations of genotype and phenotype in hypophosphatasia.";
Hum. Mol. Genet. 8:1039-1046(1999).
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[20]
|
VARIANTS HYPOPHOSPHATASIA LEU-62; HIS-136; VAL-162; TYR-171; LYS-191; TYR-201; VAL-249; VAL-306 AND LYS-476.
DOI=10.1002/(SICI)1098-1004(1999)13:2<171::AID-HUMU16>3.0.CO;2-T; PubMed=10094560 [NCBI, ExPASy, EBI, Israel, Japan]
Taillandier A.,
Zurutuza L.,
Muller F.,
Simon-Bouy B.,
Serre J.L.,
Bird L.,
Brenner R.,
Boute O.,
Cousin J.,
Gaillard D.,
Heidemann P.H.,
Steinmann B.,
Wallot M.,
Mornet E.;
"Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia.";
Hum. Mutat. 13:171-172(1999).
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[21]
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VARIANTS HYPOPHOSPHATASIA GLU-224 AND CYS-426.
DOI=10.1007/s004310051290; PubMed=10834525 [NCBI, ExPASy, EBI, Israel, Japan]
Mochizuki H.,
Saito M.,
Michigami T.,
Ohashi H.,
Koda N.,
Yamaguchi S.,
Ozono K.;
"Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.";
Eur. J. Pediatr. 159:375-379(2000).
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[22]
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VARIANTS HYPOPHOSPHATASIA VAL-40; THR-111; ASN-134; THR-176; LYS-191; TYR-201; SER-246; THR-348; ARG-381; GLY-406; HIS-450; ILE-478 AND SER-489.
DOI=10.1002/(SICI)1098-1004(200003)15:3<293::AID-HUMU11>3.0.CO;2-Q; PubMed=10679946 [NCBI, ExPASy, EBI, Israel, Japan]
Taillandier A.,
Cozien E.,
Muller F.,
Merrien Y.,
Bonnin E.,
Fribourg C.,
Simon-Bouy B.,
Serre J.L.,
Bieth E.,
Brenner R.,
Cordier M.P.,
De Bie S.,
Fellmann F.,
Freisinger P.,
Hesse V.,
Hennekam R.C.M.,
Josifova D.,
Kerzin-Storrar L.,
Leporrier N., ![]()
Zabot M.-T.,
Mornet E.;
"Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.";
Hum. Mutat. 15:293-293(2000).
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[23]
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VARIANT HYPOPHOSPHATASIA VAL-378, AND VARIANT ALA-522.
DOI=10.1210/jc.85.2.743; PubMed=10690885 [NCBI, ExPASy, EBI, Israel, Japan]
Mueller H.L.,
Yamazaki M.,
Michigami T.,
Kageyama T.,
Schoenau E.,
Schneider P.,
Ozono K.;
"Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.";
J. Clin. Endocrinol. Metab. 85:743-747(2000).
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[24]
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VARIANT HYPOPHOSPHATASIA SER-417.
DOI=10.1002/ajmg.1541.abs; PubMed=11745997 [NCBI, ExPASy, EBI, Israel, Japan]
Sergi C.,
Mornet E.,
Troeger J.,
Voigtlaender T.;
"Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.";
Am. J. Med. Genet. 103:235-240(2001).
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[25]
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CHARACTERIZATION OF VARIANTS HYPOPHOSPHATASIA VAL-40; VAL-63; THR-116; LEU-181; TRP-184; TRP-223; VAL-249; VAL-378; ILE-478 AND PHE-490.
DOI=10.1007/s004390100546; PubMed=11479741 [NCBI, ExPASy, EBI, Israel, Japan]
Lia-Baldini A.S.,
Muller F.,
Taillandier A.,
Gibrat J.F.,
Mouchard M.,
Robin B.,
Simon-Bouy B.,
Serre J.L.,
Aylsworth A.S.,
Bieth E.,
Delanote S.,
Freisinger P.,
Hu J.C.-C.,
Krohn H.-P.,
Nunes M.E.,
Mornet E.;
"A molecular approach to dominance in hypophosphatasia.";
Hum. Genet. 109:99-108(2001).
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[26]
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VARIANTS HYPOPHOSPHATASIA CYS-28; VAL-40; VAL-51; HIS-71; THR-116; HIS-136; HIS-152; THR-176; THR-179; LYS-191; ASP-211; VAL-220; GLY-235; TYR-294; GLY-327; SER-399; ALA-423 AND MET-459.
DOI=10.1002/humu.1154; PubMed=11438998 [NCBI, ExPASy, EBI, Israel, Japan]
Taillandier A.,
Lia-Baldini A.S.,
Mouchard M.,
Robin B.,
Muller F.,
Simon-Bouy B.,
Serre J.L.,
Bera-Louville A.,
Bonduelle M.,
Eckhardt J.,
Gaillard D.,
Myhre A.G.,
Koertge-Jung S.,
Larget-Piet L.,
Malou E.,
Sillence D.,
Temple I.K.,
Viot G.,
Mornet E.;
"Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.";
Hum. Mutat. 18:83-84(2001).
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[27]
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VARIANTS HYPOPHOSPHATASIA MET-68; SER-71; THR-177; TRP-223; PRO-275 AND HIS-391, CHARACTERIZATION OF VARIANTS HYPOPHOSPHATASIA MET-68; SER-71; THR-177; TRP-223; PRO-275 AND HIS-391, VARIANT ALA-522, AND CHARACTERIZATION OF VARIANT ALA-522.
PubMed=11760847 [NCBI, ExPASy, EBI, Israel, Japan]
Orimo H.,
Girschick H.J.,
Goseki-Sone M.,
Ito M.,
Oda K.,
Shimada T.;
"Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.";
J. Bone Miner. Res. 16:2313-2319(2001).
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[28]
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VARIANT HYPOPHOSPHATASIA VAL-132.
DOI=10.1034/j.1601-0825.2001.00740.x; PubMed=11834095 [NCBI, ExPASy, EBI, Israel, Japan]
Watanabe H.,
Hashimoto-Uoshima M.,
Goseki-Sone M.,
Orimo H.,
Ishikawa I.;
"A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.";
Oral Dis. 7:331-335(2001).
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[29]
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VARIANTS HYPOPHOSPHATASIA LYS-291 AND ARG-326.
DOI=10.1023/A:1015121414782; PubMed=11999978 [NCBI, ExPASy, EBI, Israel, Japan]
Litmanovitz I.,
Reish O.,
Dolfin T.,
Arnon S.,
Regev R.,
Grinshpan G.,
Yamazaki M.,
Ozono K.;
"Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.";
J. Inherit. Metab. Dis. 25:35-40(2002).
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[30]
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VARIANTS HYPOPHOSPHATASIA SER-51; HIS-71; THR-111; MET-128; HIS-134; HIS-136; THR-176; LYS-191; GLN-223; TRP-223; SER-246; ALA-294; PRO-299; PHE-327 DEL; ARG-339; THR-348; VAL-378; MET-414; ASP-426 AND LYS-476, AND VARIANTS HIS-263 AND ALA-522.
DOI=10.1006/mgme.2001.3283; PubMed=11855933 [NCBI, ExPASy, EBI, Israel, Japan]
Mumm S.,
Jones J.,
Finnegan P.,
Henthorn P.S.,
Podgornik M.N.,
Whyte M.P.;
"Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.";
Mol. Genet. Metab. 75:143-153(2002).
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[31]
|
VARIANTS HYPOPHOSPHATASIA VAL-62; ARG-63; THR-111; ILE-148; SER-162; GLU-189; ALA-220; LEU-272; GLY-293-294-ASP DEL; LYS-311; LYS-452 AND THR-468.
DOI=10.1002/humu.9159; PubMed=12815606 [NCBI, ExPASy, EBI, Israel, Japan]
Spentchian M.,
Merrien Y.,
Herasse M.,
Dobbie Z.,
Glaeser D.,
Holder S.E.,
Ivarsson S.-A.,
Kostiner D.,
Mansour S.,
Norman A.,
Roth J.,
Stipoljev F.,
Taillemite J.-L.,
van der Smagt J.J.,
Serre J.-L.,
Simon-Bouy B.,
Taillandier A.,
Mornet E.;
"Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.";
Hum. Mutat. 22:105-106(2003).
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[32]
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VARIANTS HYPOPHOSPHATASIA LEU-108; THR-116 AND MET-414, AND CHARACTERIZATION OF VARIANT HYPOPHOSPHATASIA LEU-108.
DOI=10.1136/jmg.40.8.605; PubMed=12920074 [NCBI, ExPASy, EBI, Israel, Japan]
Herasse M.,
Spentchian M.,
Taillandier A.,
Keppler-Noreuil K.,
Fliorito A.N.M.,
Bergoffen J.,
Wallerstein R.,
Muti C.,
Simon-Bouy B.,
Mornet E.;
"Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene.";
J. Med. Genet. 40:605-609(2003).
|
[33]
|
VARIANT HYPOPHOSPHATASIA GLY-114.
DOI=10.1016/j.arcped.2004.02.018; PubMed=15135428 [NCBI, ExPASy, EBI, Israel, Japan]
Draguet C.,
Gillerot Y.,
Mornet E.;
"Childhood hypophosphatasia: a case report due to a novel mutation.";
Arch. Pediatr. 11:440-443(2004).
|
[34]
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VARIANTS HYPOPHOSPHATASIA VAL-33; HIS-136; GLN-223; TRP-223; HIS-272; THR-292; ALA-294; THR-295; ASP-297; ASP-334 AND ALA-411, AND CHARACTERIZATION OF VARIANTS HYPOPHOSPHATASIA VAL-33; HIS-272; THR-292; THR-295; ASP-297 AND ALA-411.
DOI=10.1016/j.ymgme.2004.11.003; PubMed=15694177 [NCBI, ExPASy, EBI, Israel, Japan]
Brun-Heath I.,
Taillandier A.,
Serre J.-L.,
Mornet E.;
"Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.";
Mol. Genet. Metab. 84:273-277(2005).
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