Hartmann, H <br/><br/>
Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.  [electronic resource] 

 -  Neuropediatrics  Jun 2007 
 - 143-7 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>0174-304X 
<br/><br/><label>Standard No.: </label>10.1055/s-2007-985902  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Age of Onset<br/>Alanine--genetics<br/>Alexander Disease--genetics<br/>Cysteine--genetics<br/>DNA Mutational Analysis--methods<br/>Exons--genetics<br/>Female<br/>Frontal Lobe--pathology<br/>Glial Fibrillary Acidic Protein--genetics<br/>Humans<br/>Infant<br/>Magnetic Resonance Imaging--methods<br/>Male<br/>Mutation--genetics<br/>Protein Structure, Tertiary--genetics<br/>Tyrosine--genetics<br/>Valine--genetics