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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Author:

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 et al.

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

9 September 2011

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