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.

• Authors: N Iwasaki, I Okabe, M Y Momoi, H Ohashi, M Ogata, Y Iwamoto
• Journal: Diabetologia (Diabetologia) Vol. 44 Issue 3 Pg. 387-8 (Mar 2001) ISSN: 0012-186X [Print] Germany
• PMID: 11317673 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• 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, pathology)
• Nuclear Family
• RNA Splicing (genetics)
• Sequence Deletion
• Transcription Factors (genetics)
• Uterus (abnormalities, pathology)