• Mutation; HGNC; HGNC:438; ALPL; Simple; p.Arg71Cys (c.211C>T) (R54C, 378T); ClinVar=VCV000013663; Zygosity=Heterozygous (PubMed=1409720).
  
• Mutation; HGNC; HGNC:438; ALPL; Simple; p.Asp294Ala (c.881A>C) (D277A, 1057C); ClinVar=VCV000013664; Zygosity=Heterozygous (PubMed=1409720).
  

PubMed=2705456; PMCID=PMC1715639
Mitchell J. Weiss, Kunal Ray, Michael D. Fallon, Michael Peter Whyte, Kenton N. Fedde, Mary Ann Lafferty, Richard A. Mulivor, Harry Harris;
Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia.
Am. J. Hum. Genet. 44:686-694(1989)

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=1409720; DOI=10.1073/pnas.89.20.9924; PMCID=PMC50246
Paula S. Henthorn, Michael Raducha, Kenton N. Fedde, Mary Ann Lafferty, Michael Peter Whyte;
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)

PubMed=8675582; DOI=10.1210/jcem.81.7.8675582
Kenton N. Fedde, Michelle P. Michell, Paula S. Henthorn, Michael Peter Whyte;
Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia.
J. Clin. Endocrinol. Metab. 81:2587-2594(1996)