Article
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency.
Acta paediatrica (Oslo, Norway : 1992) - 1 Mar 1999
Paulino L C, Araujo M, Guerra G, Marini S H, De Mello M P
Abstract excerpt
Deficiency of adrenal steroid 21-hydroxylase is the most common form of congenital adrenal hyperplasia and it is considered to be responsible for 90% of the disease. This paper describes for the first time the CYP21B mutation profile in Brazilian patients. We genotyped 41 families with at least one individual affected with the classical form of the 21-hydroxylase deficiency, representing 74 unrelated alleles. In...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.