Publication
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Geneviève Bernard, Eliane Chouery, Maria Lisa Putorti, Martine Tétreault, Asako Takanohashi, Giovanni Carosso, Isabelle Clément, Odile Boespflug-Tanguy, Diana Rodriguez, Valérie Delague, Joelle Abou Ghoch, Nadine Jalkh, Imen Dorboz, Sebastien Fribourg, Martin Teichmann, André Megarbane, Raphael Schiffmann, Adeline Vanderver, Bernard Brais
The American Journal of Human Genetics, September 2011, Elsevier
DOI: 10.1016/j.ajhg.2011.07.014