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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 17 alpha-hydroxylase gene were amplified by the polymerase chain reaction and the gene products sequenced. PATIENTS:...

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Identifiers

PMID: 8287576
DOI: 10.1111/j.1365-2265.1993.tb02397.x

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Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene.PMID 8287576Read ↗

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