메뉴 건너뛰기




Volumn 63, Issue 2, 1998, Pages 651-654

A retGC-1 mutation in autosomal dominant cone-rod dystrophy [2]

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CONGENITAL BLINDNESS; GENE MUTATION; HOMEOBOX; INHERITANCE; LETTER; PEDIGREE; PRIORITY JOURNAL; RETINA MALFORMATION; RETINITIS PIGMENTOSA; X CHROMOSOME LINKAGE;

EID: 0032231352     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301985     Document Type: Letter
Times cited : (78)

References (18)
  • 1
    • 0029035306 scopus 로고
    • Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture
    • AC Bird Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture Am J Ophthalmol 119 1995 543 562
    • (1995) Am J Ophthalmol , vol.119 , pp. 543-562
    • Bird, AC1
  • 2
    • 0028244138 scopus 로고
    • Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
    • K Evans A Fryer C Inglehearn J Duvall-Young JL Wittaker CY Gregory R Butler Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion Nat Genet 6 1994 210 213
    • (1994) Nat Genet , vol.6 , pp. 210-213
    • Evans, K1    Fryer, A2    Inglehearn, C3    Duvall-Young, J4    Wittaker, JL5    Gregory, CY6    Butler, R7
  • 3
    • 0030669568 scopus 로고    scopus 로고
    • Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
    • CL Freund CY Gregory-Evans T Furukawa M Papaioannou J Looser L Ploder J Bellingham Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor Cell 91 1997 543 553
    • (1997) Cell , vol.91 , pp. 543-553
    • Freund, CL1    Gregory-Evans, CY2    Furukawa, T3    Papaioannou, M4    Looser, J5    Ploder, L6    Bellingham, J7
  • 5
    • 0030894570 scopus 로고    scopus 로고
    • Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p
    • RE Kelsell K Evans CY Gregory AT Moore AC Bird DM Hunt Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p Hum Mol Genet 6 1997 597 600
    • (1997) Hum Mol Genet , vol.6 , pp. 597-600
    • Kelsell, RE1    Evans, K2    Gregory, CY3    Moore, AT4    Bird, AC5    Hunt, DM6
  • 7
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: detection of linkage and estimation of recombination
    • GM Lathrop JM Lalouel C Julier J Ott Multilocus linkage analysis in humans: detection of linkage and estimation of recombination Am J Hum Genet 37 1985 482 498
    • (1985) Am J Hum Genet , vol.37 , pp. 482-498
    • Lathrop, GM1    Lalouel, JM2    Julier, C3    Ott, J4
  • 8
    • 15844405616 scopus 로고    scopus 로고
    • The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain
    • RP Laura A Dizhoor JB Hurley The membrane guanylyl cyclase, retinal guanylyl cyclase-1, is activated through its intracellular domain J Biol Chem 271 1996 11646 11651
    • (1996) J Biol Chem , vol.271 , pp. 11646-11651
    • Laura, RP1    Dizhoor, A2    Hurley, JB3
  • 9
    • 0029020995 scopus 로고
    • X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11
    • RE McGuire LS Sullivan SH Blanton MW Church JR Heckenlively SP Daiger X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11 Am J Hum Genet 57 1995 87 94
    • (1995) Am J Hum Genet , vol.57 , pp. 87-94
    • McGuire, RE1    Sullivan, LS2    Blanton, SH3    Church, MW4    Heckenlively, JR5    Daiger, SP6
  • 10
    • 0026509057 scopus 로고
    • Cone and cone-rod dystrophies
    • AT Moore Cone and cone-rod dystrophies J Med Genet 29 1992 289 290
    • (1992) J Med Genet , vol.29 , pp. 289-290
    • Moore, AT1
  • 11
    • 0030045140 scopus 로고    scopus 로고
    • Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene
    • M Nakazawa E Kikawa Y Chida T Shiono M Tamai Autosomal dominant cone-rod dystrophy associated with mutations in codon 244 (Asn244His) and codon 184 (Tyr184Ser) of the peripherin/RDS gene Arch Ophthalmol 114 1996 72 78
    • (1996) Arch Ophthalmol , vol.114 , pp. 72-78
    • Nakazawa, M1    Kikawa, E2    Chida, Y3    Shiono, T4    Tamai, M5
  • 12
    • 0028279531 scopus 로고
    • Asn244His mutation of peripherin/RDS gene causing autosomal dominant cone-rod degeneration
    • M Nakazawa E Kikawa Y Chida M Tamai Asn244His mutation of peripherin/RDS gene causing autosomal dominant cone-rod degeneration Hum Mol Genet 3 1994 1195 1196
    • (1994) Hum Mol Genet , vol.3 , pp. 1195-1196
    • Nakazawa, M1    Kikawa, E2    Chida, Y3    Tamai, M4
  • 13
    • 2642642935 scopus 로고    scopus 로고
    • Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis
    • I Perrault S Châtelin V Nancy JM Rozet S Gerber I Ghazi E Souied Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis Hum Genet 102 1998 322 326
    • (1998) Hum Genet , vol.102 , pp. 322-326
    • Perrault, I1    Châtelin, S2    Nancy, V3    Rozet, JM4    Gerber, S5    Ghazi, I6    Souied, E7
  • 15
    • 0023037646 scopus 로고
    • Cone-rod dystrophy: a clinical and histopathologic report
    • MF Rabb MO Tso GA Fishman Cone-rod dystrophy: a clinical and histopathologic report Ophthalmology 93 1986 1443 1451
    • (1986) Ophthalmology , vol.93 , pp. 1443-1451
    • Rabb, MF1    Tso, MO2    Fishman, GA3
  • 16
    • 0032477872 scopus 로고    scopus 로고
    • A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype
    • SL Semple-Rowland NR Lee Van Hooser JP K Palczewski W Baehr A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype Proc Natl Acad Sci USA 95 1998 1271 1276
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1271-1276
    • Semple-Rowland, SL1    Lee, NR2    Van Hooser, JP3    Palczewski, K4    Baehr, W5
  • 17
    • 0025827541 scopus 로고
    • The human retinal degeneration slow rds gene: chromosome assignment and structure of the mRNA
    • GH Travis L Christerson PE Danielson I Klisak RS Sparkes LB Hahn TP Dryja The human retinal degeneration slow rds gene: chromosome assignment and structure of the mRNA Genomics 10 1991 733 739
    • (1991) Genomics , vol.10 , pp. 733-739
    • Travis, GH1    Christerson, L2    Danielson, PE3    Klisak, I4    Sparkes, RS5    Hahn, LB6    Dryja, TP7
  • 18
    • 0025802099 scopus 로고
    • Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q21.1
    • M Warburg O Sjo HC Fledelius Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q21.1 Am J Med Genet 39 1991 288 293
    • (1991) Am J Med Genet , vol.39 , pp. 288-293
    • Warburg, M1    Sjo, O2    Fledelius, HC3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.