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

PubMed=2705456
Weiss M.J., Ray K., Fallon M.D., Whyte M.P., Fedde K.N., Lafferty M.A., Mulivor R.A., Harris H.
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
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=1409720; DOI=10.1073/pnas.89.20.9924
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)

PubMed=8675582; DOI=10.1210/jcem.81.7.8675582
Fedde K.N., Michell M.P., Henthorn P.S., Whyte M.P.
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)