A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.
Sakuma
H
H
Bascom Palmer Eye Institute, University of Miami School of Medicine, Florida 33136, USA.
Inana
G
G
Murakami
A
A
Yajima
T
T
Weleber
R G
RG
Murphey
W H
WH
Gass
J D
JD
Hotta
Y
Y
Hayakawa
M
M
Fujiki
K
K
D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins; D010375:Pedigree; D064531:Peripherins; D012162:Retinal Degeneration / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D059470:Tetraspanins
D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; C513106:ROM1 protein, human; D059470:Tetraspanins