Characterisation of a naturally occurring mutation “L107I” in the HNF1α “MODY3” gene

Diabetologia

Volumn 45, Issue 12, 2002, Pages 1703-1708

  Cervin, C ^a   Orho Melander, M ^a   Ridderstrale M ^a   Lehto, M ^b   Barg, S ^c   Groop, Leif ^a   Cilio, C M ^a  

^a University Hospital Malmö   (Sweden)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c LUND UNIVERSITY   (Sweden)

Author keywords

DNA binding, cell lines; Gene expression; HNF1 ; Insulin; Metabolism; MODY; Mutation; Type II diabetes

Indexed keywords

DNA; DNA BINDING PROTEIN; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; INSULIN; ISOLEUCINE; LEUCINE; NUCLEAR PROTEIN; TCF1 PROTEIN, HUMAN; TCF2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; GLUCOSE; NUCLEAR FACTOR I; PROTEIN SUBUNIT;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD; CELL NUCLEUS; DIMERIZATION; FEMALE; GENETIC TRANSCRIPTION; GENETICS; GLUCOSE BLOOD LEVEL; HETEROZYGOTE; HUMAN; MALE; METABOLISM; MUTATION; PEDIGREE; PHYSIOLOGY; PROTEIN TERTIARY STRUCTURE; TRANSPORT AT THE CELLULAR LEVEL; CELL FUNCTION; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CONTROLLED STUDY; DNA TRANSCRIPTION; FAMILY; GENE MUTATION; GENE TARGETING; HELA CELL; HUMAN CELL; INSULIN RESPONSE; MATURITY ONSET DIABETES MELLITUS; ORAL GLUCOSE TOLERANCE TEST; PANCREAS ISLET BETA CELL; PRIORITY JOURNAL; WILD TYPE;

ADULT; AMINO ACID SUBSTITUTION; BIOLOGICAL TRANSPORT; BLOOD GLUCOSE; CELL NUCLEUS; DIMERIZATION; DNA; DNA-BINDING PROTEINS; FEMALE; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HETEROZYGOTE; HUMANS; INSULIN; ISOLEUCINE; LEUCINE; MALE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 0036460025     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-002-0977-4     Document Type: Article

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