Publication

Henthorn PS, Raducha M, Fedde KN, Lafferty MA, Whyte MP, 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 A89(20):9924-8 1992
PubMed ID: 1409720

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM04235Male5 MO688probandHYPOPHOSPHATASIA, INFANTILE
GM03859Female1 DA probandHYPOPHOSPHATASIA, INFANTILE