Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY).

Human mutation

Volumn 16, Issue 3, 2000, Pages 273-

  Ellard, S ^a   Bulman, M P ^a   Frayling, T M ^a   Shepherd, M ^a   Hattersley, A T ^a  

^a UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; NUCLEAR PROTEIN; TCF1 PROTEIN, HUMAN; TCF2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADULT; ARTICLE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; HUMAN; MALE; MOLECULAR GENETICS; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; PEDIGREE;

ADULT; BASE SEQUENCE; DIABETES MELLITUS, TYPE 2; DNA-BINDING PROTEINS; FEMALE; FRAMESHIFT MUTATION; HEPATOCYTE NUCLEAR FACTOR 1; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HEPATOCYTE NUCLEAR FACTOR 1-BETA; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; NUCLEAR PROTEINS; PEDIGREE; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 0034268640     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200009)16:3<273::aid-humu18>3.0.co;2-z     Document Type: Article

References (0)