Claes, Kathleen <br/><br/>
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.  [electronic resource] 

 -  Neuromolecular medicine  Sep 2013 
 - 447-57 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1559-1174 
<br/><br/><label>Standard No.: </label>10.1007/s12017-013-8231-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Substitution<br/>Ataxia Telangiectasia--genetics<br/>Ataxia Telangiectasia Mutated Proteins--chemistry<br/>Breast Neoplasms--genetics<br/>Caffeine--pharmacology<br/>Child<br/>Exons--genetics<br/>Female<br/>G2 Phase<br/>Heterozygote<br/>Humans<br/>Lymphocytes--drug effects<br/>Male<br/>Micronucleus Tests<br/>Mutation, Missense<br/>Neoplastic Syndromes, Hereditary--genetics<br/>Neurologic Examination<br/>Pedigree<br/>Phenotype<br/>RNA Splice Sites--genetics<br/>Radiation Tolerance--genetics<br/>Recombinational DNA Repair--genetics<br/>Rhabdomyosarcoma, Embryonal--genetics<br/>S Phase<br/>Sequence Analysis, DNA