Gene: [06p/RDS] peripherin (retinal degeneration slow protein); retinal degeneration, slow; retinitis pigmentosa 7 (autosomal dominant); [RP7 ]
REL | GEM:06q1/MCDR1; GEM:06q27/RCD1; GEM:18q21/CORD1; GEM:0Xp113/COD1; GEM:11q13/ROM1." |
REF | FUN "Connell G &:
PNAS, 88, 723-726, 1991 FUN "Davies K &: Nature, 353, 798-799, 1991 MUT "Farrar GJ &: Genomics, 15, (Erratum), 466, 1993 MUT "Farrar GJ &: Genomics, 14, 805-807, 1992 LIN,LOC "Farrar GJ &: Genomics, 11, 870-874, 1991a MUT "Farrar GJ &: Nature, 354, 478-480, 1991b MUT "Feist RM &: Am J Ophthal, 118, 259-260, 1994 MUT "Jackson KE &: AJHG, 53, 1177-1177, 1993 LIN,LOC "Jordan SA &: AJHG, 50, 634-639, 1992 MUT "Kajiwara K &: Nature Genet, 3, 208-212, 1993 MUT "Kajiwara K &: AJHG, 51, A6, 1992 MUT "Kajiwara K &: Nature, 354, 480-483, 1991 MUT "Kikawa E &: Genomics, 20, 137-139, 1994 MUT "Kim RY &: Arch Ophthal, 113, 451-455, 1995 MUT "Knowles JA &: Hum Mol Genet, 3, 1401-1403, 1994 MUT "Nichols BE &: Nature Genet, 3, 202-207, 1993 CLO,SEQ,STR,POL,LOC "Travis GH &: Genomics, 10, 733-739, 1991 MUT "Wells J &: Nature Genet, 3, 213-218, 1993 MUT "Wroblewski JJ &: Ophthalmology, 101, 12-22, 1994 |
SWI | SWISSPROT: P23942 |
KEY | mem, eye |
CLA | coding, basic |
LOC | 06 p21.2-c |
MIM | MIM: 179605 |
SYN | RP7 |