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Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

✍ Scribed by Martine Tétreault; Karine Choquet; Simona Orcesi; Davide Tonduti; Umberto Balottin; Martin Teichmann; Sébastien Fribourg; Raphael Schiffmann; Bernard Brais; Adeline Vanderver; Geneviève Bernard

Book ID: 113423121
Publisher: American Society of Human Genetics
Year: 2011
Tongue: English
Weight: 526 KB
Volume: 89
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2011.10.006

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