Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Southern blot analysis was used to detect CYP21 deletions or large gene conversions, and allele-specific hybridizations were performed with DNA amplified b...

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Gepubliceerd in:J Clin Invest
Hoofdauteurs: Speiser, P W, Dupont, J, Zhu, D, Serrat, J, Buegeleisen, M, Tusie-Luna, M T, Lesser, M, New, M I, White, P C
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Clinical Investigation 1992
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Research Article
Online toegang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC443137/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1644925/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI115897
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