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

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Bibliographic Details
Published inAmerican journal of human genetics Vol. 91; no. 5; p. 972
Main Authors Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Format Journal Article
LanguageEnglish
Published Elsevier 02.11.2012
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ISSN:0002-9297
1537-6605
DOI:10.1016/j.ajhg.2012.10.001