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Structure–phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia
Mutations in the cytochrome p450 (CYP)21A2 gene, which encodes the enzyme steroid 21-hydroxylase, cause the majority of cases in congenital adrenal hyperplasia, an autosomal recessive disorder. To date, more than 100 CYP21A2 mutations have been reported. These mutations can be associated either with...
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| Auteurs principaux: | , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
National Academy of Sciences
2013
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3574933/ https://ncbi.nlm.nih.gov/pubmed/23359706 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1221133110 |
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