Article
Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.
Diabetes research and clinical practice - 1 Nov 2014
Weinert Letícia S, Silveiro Sandra P, Giuffrida Fernando M A, Cunha Vivian T, Bulcão Caroline, Calliari Luis Eduardo, Della Manna Thais, Kunii Ilda S, Dotto Renata P, Dias-da-Silva Magnus R, Reis André F
Abstract excerpt
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.
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