G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family
J Inherit Metab Dis
.
2002 Nov;25(7):601-2.
doi: 10.1023/a:1022055710295.
Authors
H Orimo
1
,
Y S Shin
,
T Shimada
Affiliation
1
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan. orimohd@nms.ac.jp
PMID:
12638946
DOI:
10.1023/a:1022055710295
No abstract available
MeSH terms
Alkaline Phosphatase / genetics*
Child, Preschool
Female
Germany
Haplotypes
Heterozygote
Humans
Hypophosphatasia / enzymology*
Hypophosphatasia / genetics*
Male
Point Mutation*
Polymorphism, Genetic
Substances
Alkaline Phosphatase