title: Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia.
authors.affiliation: Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St. , Kowloon City, Hong Kong.
authors.forename: L
authors.initials: L
authors.lastname: Baum
authors.forename: C P
authors.initials: CP
authors.lastname: Pang
authors.forename: D S
authors.initials: DS
authors.lastname: Fan
authors.forename: P M
authors.initials: PM
authors.lastname: Poon
authors.forename: Y F
authors.initials: YF
authors.lastname: Leung
authors.forename: J K
authors.initials: JK
authors.lastname: Chua
authors.forename: D S
authors.initials: DS
authors.lastname: Lam
mesh_terms: D015783:Aniridia / Q000235:genetics*; D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D018398:Homeodomain Proteins; D006801:Humans; D020125:Mutation, Missense; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D017354:Point Mutation; D016133:Polymerase Chain Reaction; 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