Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families.
Trujillo
M J
MJ
Department of Genetics, Fundación Jiménez Díaz, Av. Reyes Católicos No. 2, 28040 Madrid, Spain.
Martinez-Gimeno
M
M
Giménez
A
A
Lorda
I
I
Bueno
J
J
García-Sandoval
B
B
Ramos
C
C
Carballo
M
M
Ayuso
C
C
D019943:Amino Acid Substitution / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005136:Eye Proteins / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics*; D006639:Histidine / Q000235:genetics; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008268:Macular Degeneration / Q000235:genetics*; D008562:Membrane Glycoproteins; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000235:genetics; D014364:Tryptophan / Q000235:genetics; D014443:Tyrosine / Q000235:genetics
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; D014443:Tyrosine; D006639:Histidine; D014364:Tryptophan; D001120:Arginine; D003545:Cysteine