Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.
Grüning
G
G
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Millan
J M
JM
Meins
M
M
Beneyto
M
M
Caballero
M
M
Apfelstedt-Sylla
E
E
Bosch
R
R
Zrenner
E
E
Prieto
F
F
Gal
A
A
D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D003062:Codon; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D009479:Neuropeptides / Q000235:genetics; D010375:Pedigree; D064531:Peripherins; D016133:Polymerase Chain Reaction / Q000379:methods; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012374:Rod Cell Outer Segment / Q000378:metabolism; D017384:Sequence Deletion
D003062:Codon; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins