TY  - GEN
AU  - Claes,Kathleen
AU  - Depuydt,Julie
AU  - Taylor,A Malcolm R
AU  - Last,James I
AU  - Baert,Annelot
AU  - Schietecatte,Peter
AU  - Vandersickel,Veerle
AU  - Poppe,Bruce
AU  - De Leeneer,Kim
AU  - D'Hooghe,Marc
AU  - Vral,Anne
TI  - Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives
SN  - 1559-1174
PY  - 2014///0415
KW  - Adult
KW  - Amino Acid Substitution
KW  - Ataxia Telangiectasia
KW  - genetics
KW  - Ataxia Telangiectasia Mutated Proteins
KW  - chemistry
KW  - Breast Neoplasms
KW  - Caffeine
KW  - pharmacology
KW  - Child
KW  - Exons
KW  - Female
KW  - G2 Phase
KW  - Heterozygote
KW  - Humans
KW  - Lymphocytes
KW  - drug effects
KW  - Male
KW  - Micronucleus Tests
KW  - Mutation, Missense
KW  - Neoplastic Syndromes, Hereditary
KW  - Neurologic Examination
KW  - Pedigree
KW  - Phenotype
KW  - RNA Splice Sites
KW  - Radiation Tolerance
KW  - Recombinational DNA Repair
KW  - Rhabdomyosarcoma, Embryonal
KW  - S Phase
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s12017-013-8231-4
ER  -