Article
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.
Human mutation - 1 Jan 1998
Gilad S, Khosravi R, Harnik R, Ziv Y, Shkedy D, Galanty Y, Frydman M, Levi J, Sanal O, Chessa L, Smeets D, Shiloh Y, Bar-Shira A
Abstract excerpt
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by neurodegeneration, immunodeficiency, cancer predisposition, and radiation sensitivity. The responsible gene, ATM, has an extensive genomic structure and encodes a large transcript with a 9.2 kb open reading frame (ORF). A-T mutations are extremely variable and most of them are private. We streamlined a high throughput protocol for the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.