title: A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly.
authors.forename: Y
authors.initials: Y
authors.lastname: Nanjo
authors.forename: S
authors.initials: S
authors.lastname: Kawasaki
authors.forename: K
authors.initials: K
authors.lastname: Mori
authors.forename: C
authors.initials: C
authors.lastname: Sotozono
authors.forename: T
authors.initials: T
authors.lastname: Inatomi
authors.forename: S
authors.initials: S
authors.lastname: Kinoshita
mesh_terms: D000328:Adult; D017398:Alternative Splicing / Q000235:genetics; D000869:Anterior Eye Segment / Q000002:abnormalities*; D005136:Eye Proteins; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D012097:Repressor Proteins
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins