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

      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] (Elsevier B.V., 2014-11-01)
      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, ...