Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency.

To characterize mutations in the CYP21B gene that are responsible for congenital adrenal hyperplasia (CAH), DNA samples from 91 French patients have been studied by allelic-specific oligonucleotide hybridization and Southern blot analysis. Seven sites mostly found in the CYP21A pseudogene and deleti...

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Bibliographic Details
Main Authors: Mornet, E, Crété, P, Kuttenn, F, Raux-Demay, M C, Boué, J, White, P C, Boué, A
Format: Artigo
Language:Inglês
Published: 1991
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682755/
https://ncbi.nlm.nih.gov/pubmed/1985465
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