A novel mutation in the alternative splice region of the PAX6 gene in a patient with Peters' anomaly.
Nanjo
Y
Y
Kawasaki
S
S
Mori
K
K
Sotozono
C
C
Inatomi
T
T
Kinoshita
S
S
D000328:Adult; D017398:Alternative Splicing / Q000235:genetics; D000869:Anterior Eye Segment / Q000002:abnormalities*; D005136:Eye Proteins; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D012097:Repressor Proteins
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins