P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is a common genetic disorder due to defective 21-hydroxylation of steroid hormones. The human P450XXIA2 gene encodes cytochrome P450c21 [steroid 21-monooxygenase (steroid 21-hydroxylase), EC 1.14.99.10], which mediates 21-hydroxylation. The P450XXIA2 gene may be...

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Udgivet i:Proc Natl Acad Sci U S A
Main Authors: Matteson, K J, Phillips, J A, Miller, W L, Chung, B C, Orlando, P J, Frisch, H, Ferrandez, A, Burr, I M
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 1987
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298962/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3497399/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.84.16.5858
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