Article
Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.
Human mutation - 1 Jul 2003
Mitui Midori, Campbell Catarina, Coutinho Gabriela, Sun Xia, Lai Chih-Hung, Thorstenson Yvonne, Castellvi-Bel Sergi, Fernandez Luis, Monros Eugenia, Carvalho Beatriz Tavares Costa, Porras Oscar, Fontan Gumersindo, Gatti Richard A
Abstract excerpt
Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia-telangiectasia (A-T). Many different mutations have been identified using various techniques, with detection efficiencies ranging from 57 to 85%. In this study, we employed short tandem repeat (STR) haplotypes to enhance mutation identification in 55 unrelated A-T families of Iberian origin (20 Spanish, 17 Brazilian, and 18...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.