Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
Farrar
G J
GJ
Kenna
P
P
Jordan
S A
SA
Kumar-Singh
R
R
Humphries
M M
MM
Sharp
E M
EM
Sheils
D
D
Humphries
P
P
D001483:Base Sequence; D002896:Chromosomes, Human, Pair 6; D004277:DNA, Single-Stranded; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins; D009479:Neuropeptides / Q000235:genetics; D010375:Pedigree; D064531:Peripherins; D012174:Retinitis Pigmentosa / Q000235:genetics*
D004277:DNA, Single-Stranded; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D009479:Neuropeptides; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins