Al-Hassnan, Zuhair N <br/><br/>
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.  [electronic resource] 

 -  Journal of medical genetics  Mar 2015 
 - 186-94 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2014-102592  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Alexander Disease--genetics<br/>Child, Preschool<br/>DNA, Mitochondrial--genetics<br/>Exome--genetics<br/>Female<br/>Humans<br/>Infant<br/>Iron-Sulfur Proteins--genetics<br/>Male<br/>Middle Aged<br/>Mitochondrial Diseases--genetics<br/>Mutation, Missense<br/>Neurodegenerative Diseases--genetics<br/>Pedigree<br/>Sequence Analysis, DNA<br/>White Matter--abnormalities