Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Background: Genetic analysis is commonly performed in patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Study Objective: The objective of the study was to describe comprehensive CYP21A2 mutation analysis in a large cohort of CAH patients. Methods: Targeted CYP21A2...

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Autors principals: Finkielstain, Gabriela P., Chen, Wuyan, Mehta, Sneha P., Fujimura, Frank K., Hanna, Reem M., Van Ryzin, Carol, McDonnell, Nazli B., Merke, Deborah P.
Format: Artigo
Idioma:Inglês
Publicat: The Endocrine Society 2011
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3038490/
https://ncbi.nlm.nih.gov/pubmed/20926536
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2010-0319
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