A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa

ROM1 is a 351-amino-acid, 37-kDa outer segment membrane protein of rod photoreceptors. ROM1 is related to peripherin/RDS, another outer segment membrane protein found in both rods and cones. The precise function of ROM1 or peripherin/RDS is not known, but they have been suggested to play important r...

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Veröffentlicht in:	Genomics 1995-05, Vol.27 (2), p.384-386
Hauptverfasser:	Sakuma, Hitoshi, Inana, George, Murakami, Akira, Yajima, Toshihiro, Weleber, Richard G., Murphey, William H., Gass, J.Donald M., Hotta, Yoshihiro, Hayakawa, Mutsuko, Fujiki, Keiko, Gao, Yong Qing, Danciger, Michael, Farber, Debora, Cideciyan, Artur V., Jacobson, Samuel G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences BIOLOGY AND MEDICINE, BASIC STUDIES DETECTION Eye Proteins - genetics EYES Female GENE MUTATIONS HEREDITARY DISEASES Heterozygote Humans Intermediate Filament Proteins - genetics Male Medical sciences Membrane Glycoproteins Membrane Proteins - genetics Mutation Nerve Tissue Proteins Ophthalmology Pedigree Peripherins Retinal Degeneration - genetics Retinitis Pigmentosa - genetics Retinopathies Tetraspanins
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