A novel mutation in the RDS gene in an Italian family with pattern dystrophy.
Testa
F
F
Marini
V
V
Rossi
S
S
Interlandi
E
E
Nesti
A
A
Rinaldi
M
M
Varano
M
M
Garré
C
C
Simonelli
F
F
D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D064531:Peripherins; D012162:Retinal Degeneration / Q000235:genetics*
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578997:PRPH2 protein, human; D064531:Peripherins