ID   MW10
AC   CVCL_YU31
SY   MW 10
DR   Wikidata; Q95991579
RX   PubMed=1409720;
RX   PubMed=8675582;
CC   Sequence variation: Mutation; HGNC; HGNC:438; ALPL; Simple; p.Ala33Val (c.98C>T) (A16V, 274T); ClinVar=VCV000013667; Zygosity=Heterozygous (PubMed=1409720).
CC   Sequence variation: Mutation; HGNC; HGNC:438; ALPL; Simple; p.Tyr436His (c.1306T>C) (Y419H, 1482C); ClinVar=VCV000013668; Zygosity=Heterozygous (PubMed=1409720).
DI   NCIt; C26798; Hypophosphatasia
DI   ORDO; Orphanet_436; Hypophosphatasia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1-10Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 7
//
RX   PubMed=1409720; DOI=10.1073/pnas.89.20.9924; PMCID=PMC50246;
RA   Henthorn P.S., Raducha M., Fedde K.N., Lafferty M.A., Whyte M.P.;
RT   "Different missense mutations at the tissue-nonspecific alkaline
RT   phosphatase gene locus in autosomal recessively inherited forms of
RT   mild and severe hypophosphatasia.";
RL   Proc. Natl. Acad. Sci. U.S.A. 89:9924-9928(1992).
//
RX   PubMed=8675582; DOI=10.1210/jcem.81.7.8675582;
RA   Fedde K.N., Michell M.P., Henthorn P.S., Whyte M.P.;
RT   "Aberrant properties of alkaline phosphatase in patient fibroblasts
RT   correlate with clinical expressivity in severe forms of
RT   hypophosphatasia.";
RL   J. Clin. Endocrinol. Metab. 81:2587-2594(1996).
//