Article
Low frequency of CYP2B deletions in Brazilian patients with congenital adrenal hyperplasia due to 21-hydroxylas deficiency.
Human heredity - 1 Jan 1999
Bachega T A, Billerbeck A E, Madureira G, Arnhold I J, Medeiros M A, Marcondes J A, Longui C A, Nicolau W, Bloise W, Mendonca B B
Abstract excerpt
The frequency of large mutations was determined in 131 Brazilian patients with different clinical forms of 21-hydroxylase deficiency, belonging to 116 families. DNA samples were examined by Southern blotting hybridization with genomic CYP21 and C4cDNA probes after Taql and Bg/II restriction. Large gene conversions were found in 6.6% and CYP21B deletions in 4.4% of the alleles. The breakpoint in these hybrid genes...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.