Ara
Toplam kayıt 2, listelenen: 1-2
Splicing Defects In The Ataxia-Telangiectasia Gene, Atm: Underlying Mutations And Consequences
(Cell Press, 1999)
Mutations resulting in defective splicing constitute a significant proportion (30/62 [48%]) of a new series of mutations in the ATM gene in patients with ataxia-telangiectasia (AT) that were detected by the protein-truncation ...
Predominance of Null Mutations in Ataxia-Telangiectasia
(Oxford Univ Press, 1996)
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer predisposition. The responsible gene, AIM, was recently ...