A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young

Diabetologia

Volumn 40, Issue 7, 1997, Pages 859-862

  Bulman, M P ^a   Dronsfield, M J ^b   Frayling, T ^a   Appleton, M ^a   Bain, S C ^b   Ellard, S ^a   Hattersley, A T ^a,c  

^a UNIVERSITY OF EXETER   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c PLYMOUTH UNIVERSITY PENINSULA SCHOOLS OF MEDICINE AND DENTISTRY   (United Kingdom)

Author keywords

HNF 4 ; MODY; MODY1; Mutation analysis; Sequencing

Indexed keywords

NUCLEAR FACTOR;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 20Q; GENE MUTATION; HUMAN; MATURITY ONSET DIABETES MELLITUS; NON INSULIN DEPENDENT DIABETES MELLITUS; NONSENSE MUTATION; ONSET AGE; PEDIGREE; PRIORITY JOURNAL; UNITED KINGDOM;

BASE SEQUENCE; BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; DIABETES MELLITUS, TYPE 1; DNA-BINDING PROTEINS; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GREAT BRITAIN; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; LOD SCORE; MALE; PEDIGREE; PHOSPHOPROTEINS; POINT MUTATION; TRANSCRIPTION FACTORS;

EID: 0030850883     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250050760     Document Type: Article

References (10)

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