Article
Mutations associated with variant phenotypes in ataxia-telangiectasia.
American journal of human genetics - 1 Aug 1996
McConville C M, Stankovic T, Byrd P J, McGuire G M, Yao Q Y, Lennox G G, Taylor M R
Abstract excerpt
We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10%-15% of A-T families identified in the United Kingdom). In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site. The second A-T allele...
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