Show simple item record

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


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record