Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.

doi:10.1507/endocrj.45.493

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Article

Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan.

Endocrine journal - 1 Aug 1998

Tajima T, Fujieda K, Nakae J, Mikami A, Cutler G B

Abstract excerpt

To determine whether nonclassical steroid 21-hydroxylase deficiency in Japan has the same molecular basis as in western countries, we have characterized the mutations of the CYP21 gene in 7 Japanese patients with nonclassical (NC) steroid 21-hydroxylase deficiency. In the Japanese NC cases the P3...

Topics

Adrenal Hyperplasia, Congenital
Adult
Asian People
Child, Preschool
Female
Gene Frequency
Genotype
Humans
Infant
Japan
Male
Mutation
Sequence Analysis, DNA
Steroid 21-Hydroxylase
White People

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