Angèle, Sandra <br/><br/>
Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation.  [electronic resource] 

 -  Human mutation  Feb 2003 
 - 169-70 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.9107  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Ataxia Telangiectasia--enzymology<br/>Ataxia Telangiectasia Mutated Proteins<br/>Cell Cycle--genetics<br/>Cell Cycle Proteins<br/>Cell Line<br/>Cell Survival--radiation effects<br/>Child, Preschool<br/>DNA Mutational Analysis--methods<br/>DNA-Binding Proteins<br/>Humans<br/>Loss of Heterozygosity--genetics<br/>Lymphocytes--chemistry<br/>Male<br/>Mutation, Missense--genetics<br/>Phenotype<br/>Phosphatidylinositol 3-Kinases--genetics<br/>Protein Serine-Threonine Kinases--genetics<br/>RNA, Messenger--metabolism<br/>Radiation Tolerance--genetics<br/>Tumor Suppressor Proteins