Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.
Orimo
H
H
Department of Biochemistry and Molecular Biology, Nippon Medical School, Tokyo, Japan.
Hayashi
Z
Z
Watanabe
A
A
Hirayama
T
T
Hirayama
T
T
Shimada
T
T
D000469:Alkaline Phosphatase / Q000172:deficiency / Q000235:genetics*; D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007014:Hypophosphatasia / Q000201:enzymology* / Q000235:genetics*; D007223:Infant; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
D017931:DNA Primers; D000469:Alkaline Phosphatase