Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus

Diabetologia. 2001 Mar;44(3):387-8. doi: 10.1007/s001250051631.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • DNA-Binding Proteins / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Genetic Carrier Screening
  • Hepatocyte Nuclear Factor 1-beta
  • Humans
  • Kidney / pathology*
  • Kidney Diseases, Cystic / genetics
  • Kidney Diseases, Cystic / pathology
  • Nuclear Family
  • RNA Splicing / genetics*
  • Sequence Deletion*
  • Transcription Factors / genetics*
  • Uterus / abnormalities*
  • Uterus / pathology

Substances

  • DNA-Binding Proteins
  • HNF1B protein, human
  • Transcription Factors
  • Hepatocyte Nuclear Factor 1-beta