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...

ver descrição completa

Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Amor, M, Parker, K L, Globerman, H, New, M I, White, P C
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1988
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC279821/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3257825/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.85.5.1600
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!