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

Human mutation

Volumn 21, Issue 2, 2003, Pages 169-170

  Angèle, Sandra ^a   Laugé, Anthony ^a   Fernet, Marie ^a   Moullan, Norman ^a   Beauvais, Pierre ^a   Couturier, Jérôme ^a   Stoppa Lyonnet, Dominique ^a   Hall, Janet ^a  

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ATM PROTEIN; CELL CYCLE PROTEIN; DNA BINDING PROTEIN; MESSENGER RNA; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN SERINE THREONINE KINASE; TUMOR SUPPRESSOR PROTEIN;

ARTICLE; ATAXIA TELANGIECTASIA; CASE REPORT; CELL CYCLE; CELL LINE; CELL SURVIVAL; CHEMISTRY; ENZYMOLOGY; GENETICS; HETEROZYGOSITY LOSS; HUMAN; LYMPHOCYTE; MALE; METABOLISM; METHODOLOGY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; RADIATION DOSE; RADIATION EXPOSURE;

1-PHOSPHATIDYLINOSITOL 3-KINASE; ATAXIA TELANGIECTASIA; CELL CYCLE; CELL CYCLE PROTEINS; CELL LINE; CELL SURVIVAL; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; HUMANS; LOSS OF HETEROZYGOSITY; LYMPHOCYTES; MALE; MUTATION, MISSENSE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RADIATION TOLERANCE; RNA, MESSENGER; TUMOR SUPPRESSOR PROTEINS;

MLCS; MLOWN;

EID: 0037315580     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9107     Document Type: Article

References (0)