Haaxma, Charlotte A <br/><br/>
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Oct 2010 
 - 2612-7 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.33620  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Substitution<br/>Asparagine--genetics<br/>Aspartic Acid--genetics<br/>Brain Diseases--genetics<br/>DNA--genetics<br/>Exodeoxyribonucleases--genetics<br/>Female<br/>Genetic Carrier Screening<br/>Humans<br/>Muscle, Skeletal--pathology<br/>Mutation<br/>Phosphoproteins--genetics<br/>Proteins--genetics