Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
Author:
Martine Tétreault,Karine Choquet,Simona Orcesi,Davide Tonduti,Umberto Balottin,Martin Teichmann,Sébastien Fribourg,Raphael Schiffmann,Bernard Brais,Adeline Vanderver,Geneviève Bernard
Publication:
The American Journal of Human Genetics
Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.