Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. [electronic resource]
- Human mutation Mar 2012
- 561-71 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.22016 doi
Adolescent Adult Ataxia Telangiectasia--genetics Ataxia Telangiectasia Mutated Proteins Cell Cycle Proteins--genetics Child DNA-Binding Proteins--genetics Female Genetic Association Studies Humans Male Middle Aged Protein Serine-Threonine Kinases--genetics Tumor Suppressor Proteins--genetics Young Adult