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Title: Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY
Authors: Weinert, Leticia S.
Silveiro, Sandra P.
Giuffrida, Fernando M. A.
Cunha, Vivian T.
Bulcao, Caroline
Calliari, Luis Eduardo
Della Manna, Thais
Kunii, Ilda S. [UNIFESP]
Dotto, Renata P. [UNIFESP]
Dias-da-Silva, Magnus R. [UNIFESP]
Reis, Andre F. [UNIFESP]
Univ Fed Rio Grande Sul UFRGS
Ctr Endocrinol Estado Bahia CEDEBA
Univ Estado Bahia UNEB
Santa Casa Misericordia
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Keywords: Maturity-onset diabetes of the young (MODY)
Monogenic diabetes
Issue Date: 1-Nov-2014
Publisher: Elsevier B.V.
Citation: Diabetes Research and Clinical Practice. Clare: Elsevier B.V., v. 106, n. 2, p. E44-E48, 2014.
Abstract: Thirty-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.
ISSN: 0168-8227
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