Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY
Copyright policy )Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY
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.
- UNIVERSIDADE DE SAO PAULO Brazil
- Universidade de São Paulo Brazil
- Bahia State University Brazil
- Federal University of Rio de Janeiro Brazil
- Hospital de Clínicas de Porto Alegre Brazil
Adult, Male, Adolescent, DNA Mutational Analysis, Mutation, Missense, HNF1A, Monogenic diabetes, Glucokinase, Humans, Hepatocyte Nuclear Factor 1-alpha, Child, Maturity-onset diabetes of the young (MODY), Incidence, Infant, DNA, Middle Aged, Pedigree, Phenotype, Diabetes Mellitus, Type 2, Child, Preschool, Hyperglycemia, Female, Brazil
Adult, Male, Adolescent, DNA Mutational Analysis, Mutation, Missense, HNF1A, Monogenic diabetes, Glucokinase, Humans, Hepatocyte Nuclear Factor 1-alpha, Child, Maturity-onset diabetes of the young (MODY), Incidence, Infant, DNA, Middle Aged, Pedigree, Phenotype, Diabetes Mellitus, Type 2, Child, Preschool, Hyperglycemia, Female, Brazil
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