Identification of a novel PAX6 gene mutation in an aniridia patient.
Sahly
I
I
Centre de Recherches Thérapeutiques en Ophtalmologie, Université René Descartes, Paris V, Faculté de Médecine Necker, France.
Abitbol
M
M
Laurent
C
C
Ghazi
I
I
Ribeaudeau
F
F
Vekemans
M
M
Dufier
J L
JL
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
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