Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, KlauVolume:
95
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2014.10.017
Date:
December, 2014
File:
PDF, 1.07 MB
english, 2014