تحميل...

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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Wilson, Robert C., Nimkarn, Saroj, Dumic, Miro, Obeid, Jihad, Razzaghy Azar, Maryam, Najmabadi, Hossein, Saffari, Fatemeh, New, Maria I.
التنسيق: Artigo
اللغة:Inglês
منشور في: 2007
الموضوعات:
الوصول للمادة أونلاين: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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