Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY

dc.contributorUniv Fed Rio Grande Sul UFRGS
dc.contributorCtr Endocrinol Estado Bahia CEDEBA
dc.contributorUniv Estado Bahia UNEB
dc.contributorSanta Casa Misericordia
dc.contributorUniversidade de São Paulo (USP)
dc.contributorUniversidade Federal de São Paulo (UNIFESP)
dc.creatorWeinert, Leticia S.
dc.creatorSilveiro, Sandra P.
dc.creatorGiuffrida, Fernando M. A.
dc.creatorCunha, Vivian T.
dc.creatorBulcao, Caroline
dc.creatorCalliari, Luis Eduardo
dc.creatorDella Manna, Thais
dc.creatorKunii, Ilda S. [UNIFESP]
dc.creatorDotto, Renata P. [UNIFESP]
dc.creatorDias-da-Silva, Magnus R. [UNIFESP]
dc.creatorReis, Andre F. [UNIFESP]
dc.date.accessioned2016-01-24T14:38:05Z
dc.date.accessioned2022-10-07T20:52:15Z
dc.date.available2016-01-24T14:38:05Z
dc.date.available2022-10-07T20:52:15Z
dc.date.created2016-01-24T14:38:05Z
dc.date.issued2014-11-01
dc.identifierDiabetes Research and Clinical Practice. Clare: Elsevier B.V., v. 106, n. 2, p. E44-E48, 2014.
dc.identifier0168-8227
dc.identifierhttp://repositorio.unifesp.br/handle/11600/38392
dc.identifier10.1016/j.diabres.2014.08.006
dc.identifierWOS:000346060500012
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/4024081
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.
dc.languageeng
dc.publisherElsevier B.V.
dc.relationDiabetes Research and Clinical Practice
dc.rightshttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.rightsAcesso restrito
dc.subjectMaturity-onset diabetes of the young (MODY)
dc.subjectMonogenic diabetes
dc.subjectGlucokinase
dc.subjectHNF1A
dc.titleThree unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY
dc.typeArtigo


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