Novel human pathological mutations. Gene symbol: RDS. Disease: macular dystrophy.
Villaverde
Cristina
C
Fundación Jiménez Díaz, Genética, Avda. Reyes Católicos, 2, 28040, Madrid, Spain. cvillaverde@fjd.es
Trujillo-Tiebas
M J
MJ
Gallego-Merlo
J
J
Vallespin
E
E
Cantalapiedra
D
D
Riveiro-Alvarez
R
R
Carballo
M
M
Ayuso
C
C
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008268:Macular Degeneration / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D064531:Peripherins
D003062:Codon; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578997:PRPH2 protein, human; D064531:Peripherins