Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.

doi:10.1111/j.1365-2265.1993.tb02397.x

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Article

Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.

Clinical endocrinology - 1 Oct 1993

Rumsby G, Skinner C, Lee H A, Honour J W

Abstract excerpt

OBJECTIVE: To determine the genetic defect underlying congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency in a genetic female. DESIGN: Blood samples were used as a source of genomic DNA. A library of size selected genomic DNA sequences was prepared. In addition, portions of the...

Topics

Adrenal Hyperplasia, Congenital
Adult
Aldehyde-Lyases
Base Sequence
Codon
Cytochrome P-450 Enzyme System
DNA
Female
Humans
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Steroid 17-alpha-Hydroxylase

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