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Article

Disorders of steroid 17 alpha-hydroxylase deficiency.

Endocrinology and metabolism clinics of North America - 1 Jun 1994

Kater C E, Biglieri E G

Abstract excerpt

The human P450c17 alpha gene (CYP17) is a single copy gene located in chromosome 10, consisting of 8 exons and 7 introns. 17 alpha-Hydroxylase/17,20-lyase deficiency is one of two hypertensive forms of congenital adrenal hyperplasia and is inherited as an autosomal recessive trait; although rare, it probably exists with twice the frequency of the 11 beta-hydroxylase deficiency. Deficient 17 alpha-hydroxylation of...

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PMID: 8070426

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