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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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| Gepubliceerd in: | J Mol Diagn |
|---|---|
| Hoofdauteurs: | , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
American Society for Investigative Pathology
2013
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| Onderwerpen: | |
| Online toegang: | 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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