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Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.

Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. It results from a deficiency in a specific cytochrome P450, P450c21 (P450XXIA). The gene encoding this protein (CYP21B) and a closely linked pseudogene (CYP21A) are located in the HLA complex on chromosome...

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Dettagli Bibliografici
Autori principali: Amor, M, Parker, K L, Globerman, H, New, M I, White, P C
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1988
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC279821/
https://ncbi.nlm.nih.gov/pubmed/3257825
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