Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.
Goverdhan
S V
SV
Temple
I K
IK
Self
J
J
Lotery
A J
AJ
Dixon
M J
MJ
Evans
A R
AR
D000328:Adult; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*
D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human