Imam, Ibrahim <br/><br/>
Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene.  [electronic resource] 

 -  BMJ case reports  Mar 2011 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1757-790X 
<br/><br/><label>Standard No.: </label>10.1136/bcr.11.2010.3552  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Eukaryotic Initiation Factor-2B--genetics<br/>Female<br/>Genetic Testing<br/>Humans<br/>Leukoencephalopathies--diagnosis<br/>Ovarian Diseases--diagnosis<br/>Point Mutation