Guimier, Anne <br/><br/>
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.  [electronic resource] 

 -  American journal of human genetics  09 2016 
 - 666-673 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2016.06.021  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Death, Sudden, Cardiac--etiology<br/>Diphosphates<br/>Exome--genetics<br/>Female<br/>Gene Deletion<br/>Genes, Essential--genetics<br/>Genetic Complementation Test<br/>Heterozygote<br/>Humans<br/>Infant<br/>Inorganic Pyrophosphatase--genetics<br/>Male<br/>Membrane Potential, Mitochondrial--genetics<br/>Microbial Viability<br/>Mitochondria--enzymology<br/>Mitochondrial Proteins--genetics<br/>Mutation--genetics<br/>Mutation, Missense<br/>Proton Pumps--deficiency<br/>Saccharomyces cerevisiae--cytology<br/>Saccharomyces cerevisiae Proteins--genetics