G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family.
Orimo
H
H
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan. orimohd@nms.ac.jp
Shin
Y S
YS
Shimada
T
T
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
D000469:Alkaline Phosphatase