title: Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype.
abstract: Prevalence of MODY2 and MODY3 mutations has been assessed in 23 Brazilian families with MODY phenotype. Mutations in HNF-1alpha have been found in 3 families (13%) and 2 families (8.7%) had new glucokinase mutations. These genes do not explain the majority of MODY cases in Brazilian population.
authors.affiliation: Division of Diabetes, Molecular Endocrinology Laboratory, Federal University of São Paulo, São Paulo, Brazil.
authors.forename: Gilberto K
authors.initials: GK
authors.lastname: Furuzawa
authors.forename: Fernando M A
authors.initials: FM
authors.lastname: Giuffrida
authors.forename: Carolina S V
authors.initials: CS
authors.lastname: Oliveira
authors.forename: Antonio R
authors.initials: AR
authors.lastname: Chacra
authors.forename: Sergio A
authors.initials: SA
authors.lastname: Dib
authors.forename: André F
authors.initials: AF
authors.lastname: Reis
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003924:Diabetes Mellitus, Type 2 / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D005091:Exons; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence
chemical_list: C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D005941:Glucokinase