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Ethnic Specific Distribution of Mutations in 716 Patients with Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) occurs worldwide. The most common mutations in the CYP21A2 gene in 716 unrelated patients were analyzed and the mutations were grouped by ethnicity, as defined through self-declaration corroborated by review of pedigrees e...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1885892/ https://ncbi.nlm.nih.gov/pubmed/17275379 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2006.12.005 |
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