TY  - GEN
AU  - Angèle,Sandra
AU  - Laugé,Anthony
AU  - Fernet,Marie
AU  - Moullan,Norman
AU  - Beauvais,Pierre
AU  - Couturier,Jérôme
AU  - Stoppa-Lyonnet,Dominique
AU  - Hall,Janet
TI  - Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation
SN  - 1098-1004
PY  - 2003///0326
KW  - Ataxia Telangiectasia
KW  - enzymology
KW  - Ataxia Telangiectasia Mutated Proteins
KW  - Cell Cycle
KW  - genetics
KW  - Cell Cycle Proteins
KW  - Cell Line
KW  - Cell Survival
KW  - radiation effects
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - methods
KW  - DNA-Binding Proteins
KW  - Humans
KW  - Loss of Heterozygosity
KW  - Lymphocytes
KW  - chemistry
KW  - Male
KW  - Mutation, Missense
KW  - Phenotype
KW  - Phosphatidylinositol 3-Kinases
KW  - Protein Serine-Threonine Kinases
KW  - RNA, Messenger
KW  - metabolism
KW  - Radiation Tolerance
KW  - Tumor Suppressor Proteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.9107
ER  -