R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family

Diabetologia. 2000 Sep;43(9):1203. doi: 10.1007/s001250051514.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Animals
  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • Conserved Sequence
  • DNA-Binding Proteins / genetics
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Hepatocyte Nuclear Factor 4
  • Humans
  • Lod Score
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phosphoproteins / genetics*
  • Transcription Factors / genetics*
  • United Kingdom
  • White People / genetics*

Substances

  • Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
  • DNA-Binding Proteins
  • HNF4A protein, human
  • Hepatocyte Nuclear Factor 4
  • MLX protein, human
  • Phosphoproteins
  • Transcription Factors