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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

dc.contributor.authorSobrido Gómez, María Jesús 
dc.contributor.authorCastro Gago, Manuel 
dc.date.accessioned2017-06-07T07:18:13Z
dc.date.available2017-06-07T07:18:13Z
dc.date.issued2012
dc.identifier.issn1061-4036
dc.identifier.urihttp://hdl.handle.net/20.500.11940/4883
dc.language.isoeng
dc.titleMutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
dc.typeArtigoes
dc.authorsophosWan, J
dc.authorsophosYourshaw, M
dc.authorsophosMamsa, H
dc.authorsophosRudnik-Schoneborn, S
dc.authorsophosMenezes, M P
dc.authorsophosHong, J E
dc.authorsophosLeong, D W
dc.authorsophosSenderek, J
dc.authorsophosSalman, M S
dc.authorsophosChitayat, D
dc.authorsophosSeeman, P
dc.authorsophosVon Moers, A
dc.authorsophosGraul-Neumann, L
dc.authorsophosKornberg, A J
dc.authorsophosCastro-Gago, M
dc.authorsophosSobrido, M J
dc.authorsophosSanefuji, M
dc.authorsophosShieh, P B
dc.authorsophosSalamon, N
dc.authorsophosKim, R C
dc.authorsophosVinters, H V
dc.authorsophosChen, Z
dc.authorsophosZerres, K
dc.authorsophosRyan, M M
dc.authorsophosNelson, S F
dc.authorsophosJen, J C
dc.identifier.doi10.1038/ng.2254
dc.identifier.isi304551100020
dc.identifier.pmid22544365
dc.identifier.sophos8001
dc.issue.number6
dc.journal.titleNATURE GENETICS
dc.organizationConsellería de Sanidade::Fundación pública Galega de Medicina Xenómica
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Pediatría
dc.page.initial704
dc.page.final708
dc.rights.accessRightsopenAccess
dc.typesophosArtículo Original
dc.volume.number44


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