Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.
Nishigori
H
H
Department of Cell Biology, Institute for Molecular and Cellular Recognition, Gunma University School of Medicine, Gunma University, Maebashi, Japan.
Yamada
S
S
Kohama
T
T
Tomura
H
H
Sho
K
K
Horikawa
Y
Y
Bell
G I
GI
Takeuchi
T
T
Takeda
J
J
D000328:Adult; D000368:Aged; D002675:Child, Preschool; D004268:DNA-Binding Proteins; D003920:Diabetes Mellitus / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D051537:Hepatocyte Nuclear Factor 1; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000235:genetics; D008297:Male; D009687:Nuclear Proteins; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*; D016216:Ultrasonography, Prenatal
D004268:DNA-Binding Proteins; C496487:HNF1A protein, human; C496495:HNF1B protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D009687:Nuclear Proteins; D014157:Transcription Factors; D051537:Hepatocyte Nuclear Factor 1; D051539:Hepatocyte Nuclear Factor 1-beta