title: Identification of a novel PAX6 gene mutation in an aniridia patient.
authors.affiliation: Centre de Recherches Thérapeutiques en Ophtalmologie, Université René Descartes, Paris V, Faculté de Médecine Necker, France.
authors.forename: I
authors.initials: I
authors.lastname: Sahly
authors.forename: M
authors.initials: M
authors.lastname: Abitbol
authors.forename: C
authors.initials: C
authors.lastname: Laurent
authors.forename: I
authors.initials: I
authors.lastname: Ghazi
authors.forename: F
authors.initials: F
authors.lastname: Ribeaudeau
authors.forename: M
authors.initials: M
authors.lastname: Vekemans
authors.forename: J L
authors.initials: JL
authors.lastname: Dufier
mesh_terms: D015783:Aniridia / Q000235:genetics*; D001483:Base Sequence; D004247:DNA; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins; D016368:Frameshift Mutation; D018398:Homeodomain Proteins; D006801:Humans; D008969:Molecular Sequence Data; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; 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; D004247:DNA