title: A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.
authors.affiliation: Bascom Palmer Eye Institute, University of Miami School of Medicine, Florida 33136, USA.
authors.forename: H
authors.initials: H
authors.lastname: Sakuma
authors.forename: G
authors.initials: G
authors.lastname: Inana
authors.forename: A
authors.initials: A
authors.lastname: Murakami
authors.forename: T
authors.initials: T
authors.lastname: Yajima
authors.forename: R G
authors.initials: RG
authors.lastname: Weleber
authors.forename: W H
authors.initials: WH
authors.lastname: Murphey
authors.forename: J D
authors.initials: JD
authors.lastname: Gass
authors.forename: Y
authors.initials: Y
authors.lastname: Hotta
authors.forename: M
authors.initials: M
authors.lastname: Hayakawa
authors.forename: K
authors.initials: K
authors.lastname: Fujiki
mesh_terms: 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
chemical_list: 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