Hussain, Rashida <br/><br/>
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.  [electronic resource] 

 -  Molecular biology reports  May 2012 
 - 6197-201 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1573-4978 
<br/><br/><label>Standard No.: </label>10.1007/s11033-011-1438-2  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amidohydrolases--genetics<br/>Base Sequence<br/>Canavan Disease--enzymology<br/>Child<br/>DNA Mutational Analysis<br/>Family<br/>Female<br/>Homozygote<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Mutation, Missense--genetics<br/>Pakistan<br/>Pedigree<br/>Young Adult