Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.

Steroid 11 beta-hydroxylase deficiency (failure to convert 11-deoxycortisol to cortisol) is the second most common cause of congenital adrenal hyperplasia and results in a hypertensive form of the disease. The 11 beta-hydroxylase enzyme is encoded by the CYP11B1 gene on chromosome 8q22. Two mutation...

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Détails bibliographiques
Auteurs principaux: Curnow, K M, Slutsker, L, Vitek, J, Cole, T, Speiser, P W, New, M I, White, P C, Pascoe, L
Format: Artigo
Langue:Inglês
Publié: 1993
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC46550/
https://ncbi.nlm.nih.gov/pubmed/8506298
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