title: 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.forename: N
authors.initials: N
authors.lastname: Iwasaki
authors.forename: I
authors.initials: I
authors.lastname: Okabe
authors.forename: M Y
authors.initials: MY
authors.lastname: Momoi
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: M
authors.initials: M
authors.lastname: Ogata
authors.forename: Y
authors.initials: Y
authors.lastname: Iwamoto
mesh_terms: 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
chemical_list: D004268:DNA-Binding Proteins; C496495:HNF1B protein, human; D014157:Transcription Factors; D051539:Hepatocyte Nuclear Factor 1-beta