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dc.contributor.CRUESPUNIVERSIDADE DE ESTADUAL DE CAMPINASpt_BR
dc.typeCartapt_BR
dc.titleG59s Mutation In The Gjb2 (connexin 26) Gene In A Patient With Bart-pumphrey Syndrome [2]pt_BR
dc.contributor.authorAlexandrino F.pt_BR
dc.contributor.authorSartorato E.L.pt_BR
dc.contributor.authorMarques-De-Faria A.P.pt_BR
dc.contributor.authorSteiner C.E.pt_BR
unicamp.authorAlexandrino, F., Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade Estadual de Campinas (Unicamp), Campinas, São Paulo, Brazilpt_BR
unicamp.authorSartorato, E.L., Centro de Biologia Molecular e Engenharia Genética (CBMEG), Universidade Estadual de Campinas (Unicamp), Campinas, São Paulo, Brazilpt_BR
unicamp.authorMarques-De-Faria, A.P., Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, São Paulo, Brazilpt_BR
unicamp.authorSteiner, C.E., Departamento de Genética Médica, Rua Tessalia Vieira de Camargo, 126, CEP 13081-970 Campinas, Sao Paulo, Brazil, Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas, São Paulo, Brazilpt_BR
dc.description.abstract[No abstract available]en
dc.relation.ispartofAmerican Journal of Medical Geneticspt_BR
dc.date.issued2005pt_BR
dc.identifier.citationAmerican Journal Of Medical Genetics. , v. 136 A, n. 3, p. 282 - 284, 2005.pt_BR
dc.language.isoenpt_BR
dc.description.volume136 Apt_BR
dc.description.issuenumber3pt_BR
dc.description.firstpage282pt_BR
dc.description.lastpage284pt_BR
dc.rightsfechadopt_BR
dc.sourceScopuspt_BR
dc.identifier.issn15524825pt_BR
dc.identifier.doi10.1002/ajmg.a.30822pt_BR
dc.identifier.urlhttp://www.scopus.com/inward/record.url?eid=2-s2.0-22044444273&partnerID=40&md5=a5ebc5347953d03a903f567fe9bf5c27pt_BR
dc.date.available2015-06-26T14:08:58Z-
dc.date.available2015-11-26T14:08:53Z-
dc.date.accessioned2015-06-26T14:08:58Z-
dc.date.accessioned2015-11-26T14:08:53Z-
dc.description.provenanceMade available in DSpace on 2015-06-26T14:08:58Z (GMT). No. of bitstreams: 1 2-s2.0-22044444273.pdf: 114788 bytes, checksum: be6a931fbe64d3f22452f22678ce530a (MD5) Previous issue date: 2005en
dc.description.provenanceMade available in DSpace on 2015-11-26T14:08:53Z (GMT). No. of bitstreams: 2 2-s2.0-22044444273.pdf: 114788 bytes, checksum: be6a931fbe64d3f22452f22678ce530a (MD5) 2-s2.0-22044444273.pdf.txt: 13957 bytes, checksum: 59586fdfb0f6c055be55c3d216a59b1f (MD5) Previous issue date: 2005en
dc.identifier.urihttp://www.repositorio.unicamp.br/handle/REPOSIP/93682-
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/93682-
dc.identifier.idScopus2-s2.0-22044444273pt_BR
dc.description.referenceBart, R.S., Pumphrey, R.E., Knuckle pads, leukonychia and deafness - A dominant inherited syndrome (1967) New Engl J Med, 276, pp. 202-207pt_BR
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dc.description.reference(2004) Nucleotide Substitutions (Missense/Nonsense) in GJB2, , http://archive.uwcm.ac.uk/uwcm/mg/ns/1/125247.htmlpt_BR
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dc.description.referenceRichard, G., Brown, N., Ishida-Yamamoto, A., Krol, A., Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2 (2004) J Invest Dermatol, 123, pp. 856-863pt_BR
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