Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.

Verhagen, Mijke M M

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