Article
Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland.
European journal of human genetics : EJHG - 1 Jan 2000
Levo A, Jääskeläinen J, Sistonen P, Sirén M K, Voutilainen R, Partanen J
Abstract excerpt
The genealogic origin of steroid 21-hydroxylase gene (CYP21) mutations and associated haplotypes was determined in 74 unrelated Finnish families with CYP21 deficiency (congenital adrenal hyperplasia, CAH). These families account for two thirds (85/119) of all diagnosed patients of Finnish descent found in this country. We recently demonstrated that multiple founder mutations each associated with a particular...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.