Thiele, Holger <br/><br/>
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.  [electronic resource] 

 -  Human mutation  Nov 2010 
 - E1836-50 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.21357  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Autoimmune Diseases of the Nervous System--genetics<br/>Base Sequence<br/>Cerebral Arterial Diseases--genetics<br/>Codon, Nonsense<br/>Consanguinity<br/>Constriction, Pathologic<br/>Cytokines--genetics<br/>DNA Mutational Analysis<br/>DNA Primers--genetics<br/>Female<br/>Gene Expression<br/>Haplotypes<br/>Homozygote<br/>Humans<br/>Male<br/>Monomeric GTP-Binding Proteins--genetics<br/>Nervous System Malformations--genetics<br/>Pedigree<br/>SAM Domain and HD Domain-Containing Protein 1<br/>Siblings<br/>Stroke--genetics<br/>Young Adult