A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.

doi:10.1007/s100380050061

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Article

A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia.

Journal of human genetics - 1 Jan 1998

Sugimoto N, Iwamoto S, Hoshino Y, Kajii E

Abstract excerpt

Hypophosphatasia is a rare heritable inborn error of metabolism characterized by abnormal bone mineralization associated with a deficiency of alkaline phosphatase. The clinical expression of hypophosphatasia is highly variable, ranging from death in utero to pathologic fractures first presenting...

Topics

Adolescent
Alkaline Phosphatase
Female
Humans
Hypophosphatasia
Male
Mutation
Pedigree
Sequence Analysis, DNA
Tissue Distribution

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