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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

dc.contributor.authorCastro Gago, Manuel 
dc.date.accessioned2017-06-07T07:15:05Z
dc.date.available2017-06-07T07:15:05Z
dc.date.issued2015
dc.identifier.issn1552-4825
dc.identifier.urihttp://hdl.handle.net/20.500.11940/4352
dc.language.isoeng
dc.titleCharacterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
dc.typeArtigoes
dc.authorsophosCrow, Y. J.
dc.authorsophosChase, D. S.
dc.authorsophosLowenstein Schmidt, J.
dc.authorsophosSzynkiewicz, M.
dc.authorsophosForte, G. M. A.
dc.authorsophosGornall, H. L.
dc.authorsophosOojageer, A.
dc.authorsophosAnderson, B.
dc.authorsophosPizzino, A.
dc.authorsophosHelman, G.
dc.authorsophosAbdel-Hamid, M. S.
dc.authorsophosAbdel-Salam, G. M.
dc.authorsophosAckroyd, S.
dc.authorsophosAeby, A.
dc.authorsophosAgosta, G.
dc.authorsophosAlbin, C.
dc.authorsophosAllon-Shalev, S.
dc.authorsophosArellano, M.
dc.authorsophosAriaudo, G.
dc.authorsophosAswani, V.
dc.authorsophosBabul-Hirji, R.
dc.authorsophosBaildam, E. M.
dc.authorsophosBahi-Buisson, N.
dc.authorsophosBailey, K. M.
dc.authorsophosBarnerias, C.
dc.authorsophosBarth, M.
dc.authorsophosBattini, R.
dc.authorsophosBeresford, M. W.
dc.authorsophosBernard, G.
dc.authorsophosBianchi, M.
dc.authorsophosBillette de Villemeur, T.
dc.authorsophosBlair, E. M.
dc.authorsophosBloom, M.
dc.authorsophosBurlina, A. B.
dc.authorsophosLuisa Carpanelli, M.
dc.authorsophosCarvalho, D. R.
dc.authorsophosCastro-Gago, M.
dc.authorsophosCavallini, A.
dc.authorsophosCereda, C.
dc.authorsophosChandler, K. E.
dc.authorsophosChitayat, D. A.
dc.authorsophosCollins, A. E.
dc.authorsophosSierra Corcoles, C.
dc.authorsophosCordeiro, N. J. V.
dc.authorsophosCrichiutti, G.
dc.authorsophosDabydeen, L.
dc.authorsophosDale, R. C.
dc.authorsophosDarrigo, S.
dc.authorsophosDe Goede, C. G. E. L.
dc.authorsophosDe Laet, C.
dc.authorsophosDe Waele, L. M. H.
dc.authorsophosDenzler, I.
dc.authorsophosDesguerre, I.
dc.authorsophosDevriendt, K.
dc.authorsophosDi Rocco, M.
dc.authorsophosFahey, M. C.
dc.authorsophosFazzi, E.
dc.authorsophosFerrie, C. D.
dc.authorsophosFigueiredo, A.
dc.authorsophosGener, B.
dc.authorsophosGoizet, C.
dc.authorsophosGowrinathan, N. R.
dc.authorsophosGowrishankar, K.
dc.authorsophosHanrahan, D.
dc.authorsophosIsidor, B.
dc.authorsophosKara, B.
dc.authorsophosKhan, N.
dc.authorsophosKing, M. D.
dc.authorsophosKirk, E. P.
dc.authorsophosKumar, R.
dc.authorsophosLagae, L.
dc.authorsophosLandrieu, P.
dc.authorsophosLauffer, H.
dc.authorsophosLaugel, V.
dc.authorsophosPiana, R. L.
dc.authorsophosLim, M. J.
dc.authorsophosLin, J. P. S. M.
dc.authorsophosLinnankivi, T.
dc.authorsophosMackay, M. T.
dc.authorsophosMarom, D. R.
dc.authorsophosMarques Lourenco, C.
dc.authorsophosMcKee, S. A.
dc.authorsophosMoroni, I.
dc.authorsophosMorton, J. E. V.
dc.authorsophosMoutard, M. L.
dc.authorsophosMurray, K.
dc.authorsophosNabbout, R.
dc.authorsophosNampoothiri, S.
dc.authorsophosNunez-Enamorado, N.
dc.authorsophosOades, P. J.
dc.authorsophosOlivieri, I.
dc.authorsophosOstergaard, J. R.
dc.authorsophosPerez-Duenas, B.
dc.authorsophosPrendiville, J. S.
dc.authorsophosRamesh, V.
dc.authorsophosRasmussen, M.
dc.authorsophosRegal, L.
dc.authorsophosRicci, F.
dc.authorsophosRio, M.
dc.authorsophosRodriguez, D.
dc.authorsophosRoubertie, A.
dc.authorsophosSalvatici, E.
dc.authorsophosSegers, K. A.
dc.authorsophosSinha, G. P.
dc.authorsophosSoler, D.
dc.authorsophosSpiegel, R.
dc.authorsophosStodberg, T. I.
dc.authorsophosStraussberg, R.
dc.authorsophosSwoboda, K. J.
dc.authorsophosSuri, M.
dc.authorsophosTacke, U.
dc.authorsophosTan, T. Y.
dc.authorsophoste Water Naude, J.
dc.authorsophosWee Teik, K.
dc.authorsophosMary Thomas, M.
dc.authorsophosTill, M.
dc.authorsophosTonduti, D.
dc.authorsophosMaria Valente, E.
dc.authorsophosNoel Van Coster, R.
dc.authorsophosvan der Knaap, M. S.
dc.authorsophosVassallo, G.
dc.authorsophosVijzelaar, R.
dc.authorsophosVogt, J.
dc.authorsophosWallace, G. B.
dc.authorsophosWassmer, E.
dc.authorsophosWebb, H. J.
dc.authorsophosWhitehouse, W. P.
dc.authorsophosWhitney, R. N.
dc.authorsophosZaki, M. S.
dc.authorsophosZuberi, S. M.
dc.authorsophosLivingston, J. H.
dc.authorsophosRozenberg, F.
dc.authorsophosLebon, P.
dc.authorsophosVanderver, A.
dc.authorsophosOrcesi, S.
dc.authorsophosRice, G. I.
dc.identifier.doi10.1002/ajmg.a.36887
dc.identifier.isi348843600007
dc.identifier.pmid25604658
dc.identifier.sophos18939
dc.issue.number2
dc.journal.titleAMERICAN JOURNAL OF MEDICAL GENETICS PART A
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago - Complexo Hospitalario Universitario de Santiago::Pediatría
dc.page.initial296
dc.page.final312
dc.rights.accessRightsopenAccess
dc.typesophosArtículo Original
dc.volume.number167


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