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Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY
Affiliation:1. Department of Pediatrics, Asan Medical Center Children''s Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea;2. Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea;3. Department of Pediatrics, Chungnam National University School of Medicine, Daejeon, Republic of Korea;1. Department of Human Genetics, The University of Chicago, Chicago, IL, USA;2. Department of Medicine, Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, The University of Chicago, Chicago, IL, USA;3. Department of Pediatrics, Section of Adult and Pediatric Endocrinology, Diabetes & Metabolism, The University of Chicago, Chicago, IL, USA;1. Centro de Investigaciones en Bioquímica (CIBI), Departamento de Ciencias Biológicas, Universidad de Los Andes, Carrera 1 No. 18° - 12, Bogotá, Colombia;3. Instituto de Genética, Facultad de Medicina, Universidad Javeriana, Carrera 7 No. 40-62 Ed. 32, Bogotá, Colombia;4. Centro de Terapia Gênica, Centro de Pesquisa Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS 90035-003, Brazil;5. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, RS 90035-003, Brazil
Abstract:
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.
Keywords:Maturity-onset diabetes of the young (MODY)  Monogenic diabetes  Glucokinase
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