Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia

Human Mutation

Volumn 34, Issue 5, 2013, Pages 669-685

  Colclough, Kevin ^a   Bellanne Chantelot, Christine ^b   Saint Martin, Cecile ^b   Flanagan, Sarah E ^c   Ellard, Sian ^a,c  

^a ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITY OF EXETER MEDICAL SCHOOL   (United Kingdom)

Author keywords

Diabetes; HNF1A; HNF4A; Hypoglycemia; MODY

Indexed keywords

AMINO ACID; C REACTIVE PROTEIN; CHOLESTEROL; DIAZOXIDE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; INSULIN; LIPOPROTEIN; MESSENGER RNA; MUTANT PROTEIN; NUCLEOTIDE; SULFONYLUREA; TRIACYLGLYCEROL;

ARTICLE; DIMERIZATION; DNA BINDING; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENOTYPE; GLUCOSE TOLERANCE; HUMAN; INSULIN RELEASE; INSULIN SENSITIVITY; LIGAND BINDING; MACROSOMIA; META ANALYSIS (TOPIC); MISSENSE MUTATION; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PATHOGENESIS; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PHENOTYPE; PREGNANCY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ANIMALS; BASE SEQUENCE; CHROMOSOME ABERRATIONS; CPG ISLANDS; DIABETES MELLITUS, TYPE 2; DISEASE MODELS, ANIMAL; DNA PRIMERS; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; HYPERINSULINISM; HYPOGLYCEMIA; MUTATION; POLYMORPHISM, GENETIC;

EID: 84876449957     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22279     Document Type: Article

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