Clinical manifestation of a novel PAX6 mutation Arg128Pro.
Bredrup
Cecilie
C
Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway.
Knappskog
Per M
PM
Rødahl
Eyvind
E
Boman
Helge
H
D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics; D002386:Cataract / Q000235:genetics; D003318:Corneal Opacity / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005584:Fovea Centralis / Q000002:abnormalities; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007498:Iris / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009759:Nystagmus, Pathologic / Q000235:genetics; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics*; D010375:Pedigree; D011392:Proline / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics; D041623:Tomography, Optical Coherence
D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D001120:Arginine; D011392:Proline