Dörk, Thilo <br/><br/>
Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations.  [electronic resource] 

 -  American journal of medical genetics. Part A  Apr 2004 
 - 272-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.20601  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Age of Onset<br/>Ataxia Telangiectasia--genetics<br/>Ataxia Telangiectasia Mutated Proteins<br/>Cell Cycle Proteins--metabolism<br/>Child<br/>DNA Mutational Analysis<br/>DNA-Binding Proteins<br/>Disease Progression<br/>Frameshift Mutation--genetics<br/>Heterozygote<br/>Humans<br/>Male<br/>Middle Aged<br/>Mutation, Missense--genetics<br/>Nuclear Proteins--metabolism<br/>Protein Serine-Threonine Kinases--chemistry<br/>RNA Splicing<br/>Tumor Suppressor Protein p53--metabolism<br/>Tumor Suppressor Proteins