Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415
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| Published in | American journal of human genetics Vol. 91; no. 5; p. 972 |
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| Main Authors | , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Elsevier
02.11.2012
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| Subjects | |
| Online Access | Get full text |
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| Author | Chouery, Eliane Tétreault, Martine Megarbane, André Takanohashi, Asako Carosso, Giovanni Bernard, Geneviève Clément, Isabelle Rodriguez, Diana Jalkh, Nadine Boespflug-Tanguy, Odile Abou Ghoch, Joelle Delague, Valérie Dorboz, Imen Teichmann, Martin Putorti, Maria Lisa Fribourg, Sebastien Schiffmann, Raphael Brais, Bernard Vanderver, Adeline |
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| Author_xml | – sequence: 1 givenname: Geneviève surname: Bernard fullname: Bernard, Geneviève – sequence: 2 givenname: Eliane surname: Chouery fullname: Chouery, Eliane – sequence: 3 givenname: Maria Lisa surname: Putorti fullname: Putorti, Maria Lisa – sequence: 4 givenname: Martine surname: Tétreault fullname: Tétreault, Martine – sequence: 5 givenname: Asako surname: Takanohashi fullname: Takanohashi, Asako – sequence: 6 givenname: Giovanni surname: Carosso fullname: Carosso, Giovanni – sequence: 7 givenname: Isabelle surname: Clément fullname: Clément, Isabelle – sequence: 8 givenname: Odile surname: Boespflug-Tanguy fullname: Boespflug-Tanguy, Odile – sequence: 9 givenname: Diana surname: Rodriguez fullname: Rodriguez, Diana – sequence: 10 givenname: Valérie surname: Delague fullname: Delague, Valérie – sequence: 11 givenname: Joelle surname: Abou Ghoch fullname: Abou Ghoch, Joelle – sequence: 12 givenname: Nadine surname: Jalkh fullname: Jalkh, Nadine – sequence: 13 givenname: Imen surname: Dorboz fullname: Dorboz, Imen – sequence: 14 givenname: Sebastien surname: Fribourg fullname: Fribourg, Sebastien – sequence: 15 givenname: Martin surname: Teichmann fullname: Teichmann, Martin – sequence: 16 givenname: André surname: Megarbane fullname: Megarbane, André – sequence: 17 givenname: Raphael surname: Schiffmann fullname: Schiffmann, Raphael – sequence: 18 givenname: Adeline surname: Vanderver fullname: Vanderver, Adeline – sequence: 19 givenname: Bernard surname: Brais fullname: Brais, Bernard |
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| Copyright | 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics |
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| Title | Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415 |
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