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.
Iwasaki
N
N
Okabe
I
I
Momoi
M Y
MY
Ohashi
H
H
Ogata
M
M
Iwamoto
Y
Y
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D004268:DNA-Binding Proteins / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D051539:Hepatocyte Nuclear Factor 1-beta; D006801:Humans; D007668:Kidney / Q000473:pathology*; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000473:pathology; D009679:Nuclear Family; D012326:RNA Splicing / Q000235:genetics*; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*; D014599:Uterus / Q000002:abnormalities* / Q000473:pathology
D004268:DNA-Binding Proteins; C496495:HNF1B protein, human; D014157:Transcription Factors; D051539:Hepatocyte Nuclear Factor 1-beta