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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415

✍ Scribed by 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

Book ID: 119184405
Publisher: American Society of Human Genetics
Year: 2012
Tongue: English
Weight: 26 KB
Volume: 91
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.10.001

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