Shibbani, K <br/><br/>
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.  [electronic resource] 

 -  Clinical genetics  Feb 2014 
 - 127-37 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.12112  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Base Sequence<br/>Cardiomyopathies--genetics<br/>Cardiomyopathy, Dilated--genetics<br/>Carnitine--deficiency<br/>Child<br/>Child, Preschool<br/>Codon, Nonsense--genetics<br/>DNA Primers--genetics<br/>Echocardiography<br/>Female<br/>Humans<br/>Hyperammonemia--genetics<br/>Infant<br/>Lebanon<br/>Logistic Models<br/>Male<br/>Molecular Sequence Data<br/>Muscular Diseases--genetics<br/>Myocardium--pathology<br/>Odds Ratio<br/>Organic Cation Transport Proteins--genetics<br/>Pedigree<br/>Phenotype<br/>Polymerase Chain Reaction<br/>Sequence Analysis, DNA<br/>Sequence Deletion--genetics<br/>Solute Carrier Family 22 Member 5