Article
Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.
Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology - 1 Sept 2001
Yang Y P, Corley N, Garcia-Heras J
Abstract excerpt
BACKGROUND: More than 90% of cases of congenital adrenal hyperplasia (CAH) are caused by mutations of the CYP21 gene that result in deficiencies of the enzyme 21-hydroxylase. Allele-specific PCR, allele-specific oligonucleotide hybridization, and Southern blot analysis are the most common methods to detect point mutations and deletions in the CYP21 gene. METHODS AND RESULTS: This report is the first application...
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