Comprehensive Mutation Analysis of the CYP21A2 Gene: An Efficient Multistep Approach to the Molecular Diagnosis of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia, due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of adrenal steroidogenesis caused by mutations in the CYP21A2 gene. Direct comparison of established and novel methodologies of CYP21A2 genetic analysis in a large cohort representing a wide...

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Xehetasun bibliografikoak
Argitaratua izan da:J Mol Diagn
Egile Nagusiak: Xu, Zhi, Chen, Wuyan, Merke, Deborah P., McDonnell, Nazli B.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Investigative Pathology 2013
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5803549/
https://ncbi.nlm.nih.gov/pubmed/24071710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2013.06.001
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