Article
A new type of mutation causes a splicing defect in ATM.
Nature genetics - 1 Apr 2002
Pagani Franco, Buratti Emanuele, Stuani Cristiana, Bendix Regina, Dörk Thilo, Baralle Francisco E
Abstract excerpt
Disease-causing splicing mutations described in the literature primarily produce changes in splice sites and, to a lesser extent, variations in exon-regulatory sequences such as the enhancer elements. The gene ATM is mutated in individuals with ataxia-telangiectasia; we have identified the aberrant inclusion of a cryptic exon of 65 bp in one affected individual with a deletion of four nucleotides (GTAA) in intron...
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