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Article

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

Proceedings of the National Academy of Sciences of the United States of America - 1 Aug 1992

Wedell A, Ritzén E M, Haglund-Stengler B, Luthman H

Abstract excerpt

Lesions in the gene encoding steroid 21-hydroxylase [steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate complete characterization of mutations in this region of tandemly repeated genes, we have developed selective PCR amplification and direct sequencing of...

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Identifiers

PMID: 1496017
DOI: 10.1073/pnas.89.15.7232
PMCID: PMC49680

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