• Mutation; HGNC; HGNC:438; ALPL; Simple; p.Ala33Val (c.98C>T) (A16V, 274T); ClinVar=VCV000013667; Zygosity=Heterozygous (PubMed=1409720).
  
• Mutation; HGNC; HGNC:438; ALPL; Simple; p.Tyr436His (c.1306T>C) (Y419H, 1482C); ClinVar=VCV000013668; Zygosity=Heterozygous (PubMed=1409720).
  

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)