Article
ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia.
Human mutation - 1 Jun 2005
Birrell Geoff W, Kneebone Katherine, Nefedov Michael, Nefedova Elena, Jartsev M N, Mitsui Midori, Gatti Richard A, Lavin Martin F
Abstract excerpt
Mutations in the ATM gene are responsible for the autosomal recessive disorder, ataxia telangiectasia (A-T). Mutations in different ethnic groups are distributed along the entire length of the large, 66 exon ATM gene. In this study, A-T patients from 16 Russian families were assessed for immunological status and ATM haplotype analysis, and screened for ATM mutations. Haplotype analysis was performed to enhance...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.