title: G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family.
authors.affiliation: Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan. orimohd@nms.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Orimo
authors.forename: Y S
authors.initials: YS
authors.lastname: Shin
authors.forename: T
authors.initials: T
authors.lastname: Shimada
mesh_terms: D000469:Alkaline Phosphatase / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005858:Germany; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D011110:Polymorphism, Genetic
chemical_list: D000469:Alkaline Phosphatase