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

Смотрите также:

  • Gene: [08^/RP1] retinitis pigmentosa 1 (autosomal dominant);
  • RDS ген перифирина