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

Date
2014-11-01
Author
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]
Type
Artigo
ISSN
0168-8227
Is part of
Diabetes Research and Clinical Practice
DOI
10.1016/j.diabres.2014.08.006
Metadata
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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.
Citation
Diabetes Research and Clinical Practice. Clare: Elsevier B.V., v. 106, n. 2, p. E44-E48, 2014.
Keywords
Maturity-onset diabetes of the young (MODY)
Monogenic diabetes
Glucokinase
HNF1A
Sponsorship
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Postgraduate Fellowship Programme in Endocrinology-Universidade Federal do Rio Grande do Sul (UFRGS)
URI
http://repositorio.unifesp.br/handle/11600/38392
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