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dc.contributor.authorWeinert, Leticia S.
dc.contributor.authorSilveiro, Sandra P.
dc.contributor.authorGiuffrida, Fernando M. A.
dc.contributor.authorCunha, Vivian T.
dc.contributor.authorBulcao, Caroline
dc.contributor.authorCalliari, Luis Eduardo
dc.contributor.authorDella Manna, Thais
dc.contributor.authorKunii, Ilda S. [UNIFESP]
dc.contributor.authorDotto, Renata P. [UNIFESP]
dc.contributor.authorDias-da-Silva, Magnus R. [UNIFESP]
dc.contributor.authorReis, Andre F. [UNIFESP]
dc.date.accessioned2016-01-24T14:38:05Z
dc.date.available2016-01-24T14:38:05Z
dc.date.issued2014-11-01
dc.identifierhttp://dx.doi.org/10.1016/j.diabres.2014.08.006
dc.identifier.citationDiabetes Research and Clinical Practice. Clare: Elsevier B.V., v. 106, n. 2, p. E44-E48, 2014.
dc.identifier.issn0168-8227
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/38392
dc.description.abstractThirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. Previously described mutations in HNF1A were found in 2 families. (C) 2014 Elsevier Ireland Ltd. All rights reserved.en
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipPostgraduate Fellowship Programme in Endocrinology-Universidade Federal do Rio Grande do Sul (UFRGS)
dc.format.extentE44-E48
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofDiabetes Research and Clinical Practice
dc.rightsAcesso restrito
dc.subjectMaturity-onset diabetes of the young (MODY)en
dc.subjectMonogenic diabetesen
dc.subjectGlucokinaseen
dc.subjectHNF1Aen
dc.titleThree unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODYen
dc.typeArtigo
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.contributor.institutionUniv Fed Rio Grande Sul UFRGS
dc.contributor.institutionCtr Endocrinol Estado Bahia CEDEBA
dc.contributor.institutionUniv Estado Bahia UNEB
dc.contributor.institutionSanta Casa Misericordia
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.description.affiliationUniv Fed Rio Grande Sul UFRGS, Postgrad Fellowship Program Endocrinol, Hosp Clin Porto Alegre, Endocrinol Unit, Porto Alegre, RS, Brazil
dc.description.affiliationCtr Endocrinol Estado Bahia CEDEBA, Salvador, BA, Brazil
dc.description.affiliationUniv Estado Bahia UNEB, Salvador, BA, Brazil
dc.description.affiliationSanta Casa Misericordia, Pediat Endocrinol Unit, São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Hosp Clin, Inst Crianca, BR-05508 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo UNIFESP, Lab Mol & Translac Endocrinol, BR-04022001 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo UNIFESP, Ctr Diabet, BR-04022001 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo UNIFESP, Lab Mol & Translac Endocrinol, BR-04022001 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo UNIFESP, Ctr Diabet, BR-04022001 São Paulo, Brazil
dc.description.sponsorshipIDFAPESP: 2011/20747-8
dc.identifier.doi10.1016/j.diabres.2014.08.006
dc.description.sourceWeb of Science
dc.identifier.wosWOS:000346060500012


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