메뉴 건너뛰기




Volumn 41, Issue 1, 2000, Pages 244-247

ABCR gene analysis in familial exudative age-related macular degeneration

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; FAMILIAL DISEASE; FEMALE; GENE ISOLATION; GENE MUTATION; GENETIC RISK; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0033989077     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (57)

References (31)
  • 1
    • 0023181551 scopus 로고
    • Epidemiology of eye diseases in the elderly
    • Hyman L. Epidemiology of eye diseases in the elderly. Eye. 1987; 1:330-341.
    • (1987) Eye. , vol.1 , pp. 330-341
    • Hyman, L.1
  • 3
    • 0028934221 scopus 로고
    • An international classification and grading system for age-related maculopathy and age-related macular degeneration
    • The International ARM Epidemiological Study Group. An international classification and grading system for age-related maculopathy and age-related macular degeneration. Surv Ophthalmol. 1995; 39:367-374.
    • (1995) Surv Ophthalmol. , vol.39 , pp. 367-374
  • 4
    • 0023952289 scopus 로고
    • Monozygotic twins with age-related macular degeneration
    • Meyers SM, Zachary LE. Monozygotic twins with age-related macular degeneration. Arch Ophthalmol. 1988;106:651-655.
    • (1988) Arch Ophthalmol. , vol.106 , pp. 651-655
    • Meyers, S.M.1    Zachary, L.E.2
  • 6
    • 0015816276 scopus 로고
    • Drusen and disciform macular degeneration: A preliminary study
    • Gass JMD. Drusen and disciform macular degeneration: a preliminary study. Ann Ophthalmol. 1973;90:206-217.
    • (1973) Ann Ophthalmol. , vol.90 , pp. 206-217
    • Gass, J.M.D.1
  • 7
    • 0027201976 scopus 로고
    • Age related Bruch's membrane change: A clinical study of the relative role of heredity and environment
    • Piguet B, Wells JA, Palmvang IB, Wormald R, Chisholm IH, Bird A. Age related Bruch's membrane change: a clinical study of the relative role of heredity and environment. Br J Ophthalmol. 1993; 77:400-403.
    • (1993) Br J Ophthalmol. , vol.77 , pp. 400-403
    • Piguet, B.1    Wells, J.A.2    Palmvang, I.B.3    Wormald, R.4    Chisholm, I.H.5    Bird, A.6
  • 8
    • 0028033697 scopus 로고
    • Is genetic predisposition an important risk factor in age-related macular degeneration?
    • Silvestri G, Johnston PB, Hughes AE. Is genetic predisposition an important risk factor in age-related macular degeneration? Eye. 1994;8:564-568.
    • (1994) Eye , vol.8 , pp. 564-568
    • Silvestri, G.1    Johnston, P.B.2    Hughes, A.E.3
  • 10
    • 0032014838 scopus 로고    scopus 로고
    • The ∈4 allele of the apoE gene as a potential protective factor for exudative age-related macular degeneration
    • Souied EH, Benlian P, Amouyel P, et al.. The ∈4 allele of the apoE gene as a potential protective factor for exudative age-related macular degeneration. Am J Ophthalmol. 1998;125:353-359.
    • (1998) Am J Ophthalmol. , vol.125 , pp. 353-359
    • Souied, E.H.1    Benlian, P.2    Amouyel, P.3    Et, A.4
  • 11
    • 0032468842 scopus 로고    scopus 로고
    • Age-related macular degeneration: Clinical features in a large family and linkage to chromosome 1
    • Klein ML Schulz DW, Edwards A, et al. Age-related macular degeneration: clinical features in a large family and linkage to chromosome 1. Arch Ophthalmol. 1998;116:1082-1088.
    • (1998) Arch Ophthalmol. , vol.116 , pp. 1082-1088
    • Klein, M.L.1    Schulz, D.W.2    Edwards, A.3
  • 13
    • 0031415654 scopus 로고    scopus 로고
    • The relation of cardiovascular disease and its risk factors to the 5-year incidence of age-related maculopathy: The Beaver Dam Eye Study
    • Klein R, Klein BEK, Jensen SC. The relation of cardiovascular disease and its risk factors to the 5-year incidence of age-related maculopathy: The Beaver Dam Eye Study. Ophthalmology. 1997; 104:1804-1812.
    • (1997) Ophthalmology , vol.104 , pp. 1804-1812
    • Klein, R.1    Klein, B.E.K.2    Jensen, S.C.3
  • 14
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive stargardt macular dystrophy
    • Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236-246.
    • (1997) Nat Genet. , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 15
    • 0031606609 scopus 로고    scopus 로고
    • Retinitis pimentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
    • Martinez-Mir A, Paloma E, Allikmets R, et al. Retinitis pimentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet. 1998;18:11-12.
    • (1998) Nat Genet. , vol.18 , pp. 11-12
    • Martinez-Mir, A.1    Paloma, E.2    Allikmets, R.3
  • 16
    • 6844259885 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmenlosa and cone-rod dystrophy caused by splice mutations in the Stargardt's disease gene ABCR
    • Cremers FP, van de Pol DJ, van Driel M, et al. Autosomal recessive retinitis pigmenlosa and cone-rod dystrophy caused by splice mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 1998;7:355-362.
    • (1998) Hum Mol Genet. , vol.7 , pp. 355-362
    • Cremers, F.P.1    Van De Pol, D.J.2    Van Driel, M.3
  • 17
    • 0031922842 scopus 로고    scopus 로고
    • Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-22.1 and identification of novel mutations in Stargardt's disease
    • Nasonkin I, Iling M, Koehler MR, Schmid M, Molday RS, Weber BH. Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-22.1 and identification of novel mutations in Stargardt's disease. Hum Genet. 1998;102:21-26.
    • (1998) Hum Genet. , vol.102 , pp. 21-26
    • Nasonkin, I.1    Iling, M.2    Koehler, M.R.3    Schmid, M.4    Molday, R.S.5    Weber, B.H.6
  • 18
    • 13144294983 scopus 로고    scopus 로고
    • Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
    • Rozet JM, Gerber S, Souied E, et al. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. Eur J Hum Genet. 1998;6:291-295.
    • (1998) Eur J Hum Genet. , vol.6 , pp. 291-295
    • Rozet, J.M.1    Gerber, S.2    Souied, E.3
  • 19
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene in age-related macular degeneration
    • Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene in age-related macular degeneration. Science. 1997; 277:1805-1807.
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3
  • 20
    • 0032998027 scopus 로고    scopus 로고
    • Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: Evidence of clinical heterogeneity at this locus
    • Rozet JM, Gerber S, Ghazi I, et al. Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. J Med Genet. 1999:36:447-451.
    • (1999) J Med Genet. , vol.36 , pp. 447-451
    • Rozet, J.M.1    Gerber, S.2    Ghazi, I.3
  • 21
    • 0032900958 scopus 로고    scopus 로고
    • Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
    • Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol. 1999;117:504-510.
    • (1999) Arch Ophthalmol. , vol.117 , pp. 504-510
    • Fishman, G.A.1    Stone, E.M.2    Grover, S.3    Derlacki, D.J.4    Haines, H.L.5    Hockey, R.R.6
  • 22
    • 0032796491 scopus 로고    scopus 로고
    • Age related macular degeneration in Stargardt's grandparents: Genetic study
    • Souied EH, Ducroq D, Gerber S, et al. Age related macular degeneration in Stargardt's grandparents: genetic study. Am J Ophthtalmol. 1999;128:173-178.
    • (1999) Am J Ophthtalmol. , vol.128 , pp. 173-178
    • Souied, E.H.1    Ducroq, D.2    Gerber, S.3
  • 23
    • 0032950521 scopus 로고    scopus 로고
    • The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: From monogenic to multifactorial
    • Shroyer NF, Lewis RA, Allikmets R, et al. The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res. 1999:39:2537-3544.
    • (1999) Vision Res. , vol.39 , pp. 2537-3544
    • Shroyer, N.F.1    Lewis, R.A.2    Allikmets, R.3
  • 24
    • 0033071210 scopus 로고    scopus 로고
    • Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
    • Lewis RA, Shroyer NF, Singh N, et al. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. Am J Hum Genet. 1999;64:422-434.
    • (1999) Am J Hum Genet. , vol.64 , pp. 422-434
    • Lewis, R.A.1    Shroyer, N.F.2    Singh, N.3
  • 26
    • 12944255842 scopus 로고    scopus 로고
    • Analysis of the Stargardt disease gene (ABCR) in age related macular degeneration
    • De La Paz MA, Guy VK, Abou-Donia S, et al. Analysis of the Stargardt disease gene (ABCR) in age related macular degeneration. Ophthalmology. 1999;106:1531-1536.
    • (1999) Ophthalmology , vol.106 , pp. 1531-1536
    • De La Paz, M.A.1    Guy, V.K.2    Abou-Donia, S.3
  • 27
    • 0031795853 scopus 로고    scopus 로고
    • Allelic variation in ABCR associated with Stargardt disease but not with age-related macular degeneration
    • Stone EM, Webster AR, Vandenburgh K, et al. Allelic variation in ABCR associated with Stargardt disease but not with age-related macular degeneration. Nat Genet. 1998:20:328-329.
    • (1998) Nat Genet. , vol.20 , pp. 328-329
    • Stone, E.M.1    Webster, A.R.2    Vandenburgh, K.3
  • 28
    • 0031913443 scopus 로고    scopus 로고
    • Complete exon-intron structure of the retina-specific ATP binding transporter gene allows the identification of novel mutations underlying Stargardt disease
    • Gerber G, Rozet JM, van de Pol TJ, et al. Complete exon-intron structure of the retina-specific ATP binding transporter gene allows the identification of novel mutations underlying Stargardt disease. Genomics. 1998;48:139-142.
    • (1998) Genomics , vol.48 , pp. 139-142
    • Gerber, G.1    Rozet, J.M.2    Van De Pol, T.J.3
  • 29
    • 0021850103 scopus 로고
    • Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
    • Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet. 1985;37:482-498.
    • (1985) Am J Hum Genet. , vol.37 , pp. 482-498
    • Lathrop, G.M.1    Lalouel, J.M.2    Julier, C.3    Ott, J.4
  • 30
    • 0027434131 scopus 로고
    • How sensitive is PCR-SSCP?
    • Hayashi K, Yandell DW. How sensitive is PCR-SSCP? Hum Mut. 1993;2:338-346.
    • (1993) Hum Mut. , vol.2 , pp. 338-346
    • Hayashi, K.1    Yandell, D.W.2
  • 31
    • 0027193630 scopus 로고
    • The sensitivity of single-strand-conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand-conformation polymorphism analysis for the detection of single base substitutions. Genomics. 1993;16: 325-332.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.