A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia.
Murton
N J
NJ
Molecular Medicine Unit, Clinical Sciences Building, St. James's University Hospital, Leeds, LS9 7TF, UK.
Rehman
I
I
Black
G C
GC
Inglehearn
C F
CF
Churchill
A J
AJ
D015783:Aniridia / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins; D018398:Homeodomain Proteins; D006801:Humans; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D017384:Sequence Deletion / Q000235:genetics*
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