Voltar
Artigo Produção Nacional Revisado por pares
BIBTEX RIS

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

2014; Elsevier BV; Volume: 106; Issue: 2 Linguagem: Inglês

10.1016/j.diabres.2014.08.006

ISSN

1872-8227

Autores

Letícia Schwerz Weinert, Sandra Pinho Silveiro, Fernando M. A. Giuffrida, Vivian Trein Cunha, Caroline Bulcão, Luís Eduardo Calliari, Thaís Della Manna, Ilda S. Kunii, Renata P. Dotto, Magnus R. Dias‐da‐Silva, André F. Reis,

Tópico(s)

Genetics and Neurodevelopmental Disorders

Resumo

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.

Referência(s)