Abstract | AIMS/HYPOTHESIS: METHODS: RESULTS: In total 52 sequence variants were found in the HNF-1alpha, HNF-4alpha and glucokinase genes, 12 of which were considered as MODY mutations. Three families had the A3243G mutation in the mitochondrial tRNA(Leu) gene, which resulted in an overall prevalence of these mutations of 13 %. CONCLUSION/INTERPRETATION: Among 115 Scandinavian families, mutations in the HNF-1alpha gene represented the most common cause of familial early-onset ( </= 40 years) diabetes: MODY3 (5.2 %) more than MODY2 (3.5 %) more than MIDD (2.6 %) more than MODY1 (1.7 %).
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Authors | M Lehto, C Wipemo, S A Ivarsson, C Lindgren, M Lipsanen-Nyman, J Weng, L Wibell, E Widén, T Tuomi, L Groop |
Journal | Diabetologia
(Diabetologia)
Vol. 42
Issue 9
Pg. 1131-7
(Sep 1999)
ISSN: 0012-186X [Print] Germany |
PMID | 10447526
(Publication Type: Journal Article, Multicenter Study, Research Support, Non-U.S. Gov't)
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Chemical References |
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
- DNA, Mitochondrial
- DNA-Binding Proteins
- HNF1A protein, human
- HNF1B protein, human
- HNF4A protein, human
- Hepatocyte Nuclear Factor 1-alpha
- Hepatocyte Nuclear Factor 4
- MLX protein, human
- Nuclear Proteins
- Phosphoproteins
- Transcription Factors
- Hepatocyte Nuclear Factor 1
- Hepatocyte Nuclear Factor 1-beta
- Glucokinase
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Topics |
- Adult
- Age Factors
- Aged
- Aged, 80 and over
- Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
- DNA, Mitochondrial
(genetics)
- DNA-Binding Proteins
(genetics)
- Diabetes Mellitus, Type 2
(enzymology, genetics)
- Exons
- Family
- Female
- Genetic Variation
- Glucokinase
(genetics)
- Hepatocyte Nuclear Factor 1
- Hepatocyte Nuclear Factor 1-alpha
- Hepatocyte Nuclear Factor 1-beta
- Hepatocyte Nuclear Factor 4
- Humans
- Introns
- Male
- Middle Aged
- Mutation
- Nuclear Proteins
- Pedigree
- Phosphoproteins
(genetics)
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Promoter Regions, Genetic
- Scandinavian and Nordic Countries
- Sequence Deletion
- Transcription Factors
(genetics)
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