W179R: a novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa.
Bareil
C
C
Laboratoire de Génétique Moléculaire et CNRS UPR 1142.
Delague
V
V
Arnaud
B
B
Demaille
J
J
Hamel
C
C
Claustres
M
M
D001120:Arginine / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008562:Membrane Glycoproteins; D020125:Mutation, Missense / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D012162:Retinal Degeneration / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics
D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D014364:Tryptophan; D001120:Arginine