Jonckheere, A I <br/><br/>
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.  [electronic resource] 

 -  Journal of medical genetics  Mar 2008 
 - 129-33 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmg.2007.052084  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Sequence<br/>Base Sequence<br/>Cardiomyopathy, Hypertrophic--enzymology<br/>Codon, Nonsense<br/>DNA Primers--genetics<br/>Genes, Mitochondrial<br/>Humans<br/>Hybrid Cells<br/>Male<br/>Mitochondrial Diseases--enzymology<br/>Mitochondrial Proton-Translocating ATPases--chemistry<br/>Molecular Sequence Data<br/>Nervous System Diseases--enzymology<br/>Sequence Homology, Amino Acid