Dotti, Maria Teresa <br/><br/>
An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant.  [electronic resource] 

 -  Journal of neurology  Apr 2009 
 - 679-82 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural 
<br/><br/><label>ISSN: </label>1432-1459 
<br/><br/><label>Standard No.: </label>10.1007/s00415-009-0147-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alexander Disease--genetics<br/>Brain--pathology<br/>Cell Line, Tumor<br/>DNA Mutational Analysis<br/>Female<br/>Glial Fibrillary Acidic Protein--genetics<br/>Humans<br/>Infant<br/>Magnetic Resonance Imaging<br/>Mutation, Missense<br/>Protein Multimerization--genetics