Nonsense mutation causing steroid 21-hydroxylase deficiency.

We determined the sequence of a mutant CYP21B gene isolated from a patient with the severe, "salt-wasting" form of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Codon 318 in this gene is changed from CAG, encoding glutamine, to TAG, a nonsense codon. This is predicted to r...

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Pubblicato in:	J Clin Invest
Autori principali:	Globerman, H, Amor, M, Parker, K L, New, M I, White, P C
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1988
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303487/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3267225/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113562
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