Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridia.
Baum
L
L
Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 3/F, 147K Argyle St. , Kowloon City, Hong Kong.
Pang
C P
CP
Fan
D S
DS
Poon
P M
PM
Leung
Y F
YF
Chua
J K
JK
Lam
D S
DS
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
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