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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...

Täydet tiedot

Tallennettuna:
Julkaisussa:Proc Natl Acad Sci U S A
Päätekijät: Amor, M, Parker, K L, Globerman, H, New, M I, White, P C
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: National Academy of Sciences 1988
Aiheet:
Research Article
Linkit: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
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