Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Titel:
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Auteur:
Hochberg, Irit Demain, Leigh A.M. Richer, Julie Thompson, Kyle Urquhart, Jill E. Rea, Alessandro Pagarkar, Waheeda Rodríguez-Palmero, Agustí Schlüter, Agatha Verdura, Edgard Pujol, Aurora Quijada-Fraile, Pilar Amberger, Albert Deutschmann, Andrea J. Demetz, Sandra Gillespie, Meredith Belyantseva, Inna A. McMillan, Hugh J. Barzik, Melanie Beaman, Glenda M. Motha, Reeya Ng, Kah Ying O’Sullivan, James Williams, Simon G. Bhaskar, Sanjeev S. Lawrence, Isabella R. Jenkinson, Emma M. Zambonin, Jessica L. Blumenfeld, Zeev Yalonetsky, Sergey Oerum, Stephanie Rossmanith, Walter Yue, Wyatt W. Zschocke, Johannes Munro, Kevin J. Battersby, Brendan J. Friedman, Thomas B. Taylor, Robert W. O’Keefe, Raymond T. Newman, William G.