Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.

Angèle, Sandra

Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation. [electronic resource] - Human mutation Feb 2003 - 169-70 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.9107 doi


Ataxia Telangiectasia--enzymology
Ataxia Telangiectasia Mutated Proteins
Cell Cycle--genetics
Cell Cycle Proteins
Cell Line
Cell Survival--radiation effects
Child, Preschool
DNA Mutational Analysis--methods
DNA-Binding Proteins
Humans
Loss of Heterozygosity--genetics
Lymphocytes--chemistry
Male
Mutation, Missense--genetics
Phenotype
Phosphatidylinositol 3-Kinases--genetics
Protein Serine-Threonine Kinases--genetics
RNA, Messenger--metabolism
Radiation Tolerance--genetics
Tumor Suppressor Proteins