title: PAX6 missense mutation in isolated foveal hypoplasia.
authors.forename: N
authors.initials: N
authors.lastname: Azuma
authors.forename: S
authors.initials: S
authors.lastname: Nishina
authors.forename: H
authors.initials: H
authors.lastname: Yanagisawa
authors.forename: T
authors.initials: T
authors.lastname: Okuyama
authors.forename: M
authors.initials: M
authors.lastname: Yamada
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics; D005136:Eye Proteins; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities*; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D012097:Repressor Proteins
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins