Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

Lesions in the gene encoding steroid 21-hydroxylase [steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate complete characterization of mutations in t...

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Bibliografiske detaljer
Main Authors: Wedell, A, Ritzén, E M, Haglund-Stengler, B, Luthman, H
Format: Artigo
Sprog:Inglês
Udgivet: 1992
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC49680/
https://ncbi.nlm.nih.gov/pubmed/1496017
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