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Volumn 243, Issue 2, 2005, Pages 87-89

Age matters - Thoughts on a grading system for ABCA4 mutations

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABC TRANSPORTER A4; LIPOFUSCIN; UNCLASSIFIED DRUG;

EID: 14944374736     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-004-1078-5     Document Type: Editorial
Times cited : (12)

References (18)
  • 1
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • 10.1126/science.277.5333.1805
    • Allikmets R, Shroyer NF, Singh N et al (1997) Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277:1805-1807 10.1126/science.277.5333.1805
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3
  • 2
    • 0002468579 scopus 로고
    • Fundus flavimaculatus
    • DA Newsome (ed) Raven Press New York
    • PA Blacharski 1988 Fundus flavimaculatus In: DA Newsome (ed) Retinal dystrophies and degenerations Raven Press New York 135-159
    • (1988) Retinal Dystrophies and Degenerations , pp. 135-159
    • Blacharski, P.A.1
  • 4
    • 0036941358 scopus 로고    scopus 로고
    • Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation
    • Gerth C, Andrassi-Darida M, Bock M, Preising MN, Weber BH, Lorenz B (2002) Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. Graefes Arch Clin Exp Ophthalmol 240:628-638
    • (2002) Graefes Arch. Clin. Exp. Ophthalmol. , vol.240 , pp. 628-638
    • Gerth, C.1    Andrassi-Darida, M.2    Bock, M.3    Preising, M.N.4    Weber, B.H.5    Lorenz, B.6
  • 6
    • 10744227207 scopus 로고    scopus 로고
    • Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
    • 1:CAS:528:DC%2BD3sXpvF2lu7g%3D
    • Jaakson K, Zernant J, Kulm M et al (2003) Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat 22:395-403 1:CAS:528:DC%2BD3sXpvF2lu7g%3D
    • (2003) Hum. Mutat. , vol.22 , pp. 395-403
    • Jaakson, K.1    Zernant, J.2    Kulm, M.3
  • 8
    • 1442299486 scopus 로고    scopus 로고
    • Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa
    • Klevering BJ, Maugeri A, Wagner A et al (2004) Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. Ophthalmology 111:546-553
    • (2004) Ophthalmology , vol.111 , pp. 546-553
    • Klevering, B.J.1    Maugeri, A.2    Wagner, A.3
  • 9
    • 10044284036 scopus 로고    scopus 로고
    • Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa
    • Klevering BJ, Yzer S, Rohrschneider K et al (2004) Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. Eur J Hum Genet
    • (2004) Eur. J. Hum. Genet.
    • Klevering, B.J.1    Yzer, S.2    Rohrschneider, K.3
  • 10
    • 0031568891 scopus 로고    scopus 로고
    • A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21
    • 1:CAS:528:DyaK2sXhtlSgu74%3D
    • Martinez-Mir A, Bayes M, Vilageliu L et al (1997) A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics 40:142-146 1:CAS:528:DyaK2sXhtlSgu74%3D
    • (1997) Genomics , vol.40 , pp. 142-146
    • Martinez-Mir, A.1    Bayes, M.2    Vilageliu, L.3
  • 11
    • 0031606609 scopus 로고    scopus 로고
    • Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
    • Martinez Mir A, Paloma E, Allikmets R et al (1998) Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet 18:11-12
    • (1998) Nat. Genet. , vol.18 , pp. 11-12
    • Martinez Mir, A.1    Paloma, E.2    Allikmets, R.3
  • 12
    • 0033794939 scopus 로고    scopus 로고
    • Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy
    • 1:CAS:528:DC%2BD3cXnsVCgsLo%3D
    • Maugeri A, Klevering BJ, Rohrschneider K et al (2000) Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. Am J Hum Genet 67:960-966 1:CAS:528:DC%2BD3cXnsVCgsLo%3D
    • (2000) Am. J Hum. Genet. , vol.67 , pp. 960-966
    • Maugeri, A.1    Klevering, B.J.2    Rohrschneider, K.3
  • 13
    • 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
    • 1:CAS:528:DyaK1MXktF2js70%3D
    • Rozet JM, Gerber S, Ghazi I et al (1999) 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 36:447-451 1:CAS:528:DyaK1MXktF2js70%3D
    • (1999) J. Med. Genet. , vol.36 , pp. 447-451
    • Rozet, J.M.1    Gerber, S.2    Ghazi, I.3
  • 14
    • 0036698193 scopus 로고    scopus 로고
    • Mutationen im ABCA4-Gen in einer Familie mit Stargardtscher Erkrankung und retinitis pigmentosa (STGD1/RP19)
    • 12353176
    • Rudolph G, Kalpadakis P, Haritoglou C, Rivera A, Weber BH (2002) Mutationen im ABCA4-Gen in einer Familie mit Stargardtscher Erkrankung und retinitis pigmentosa (STGD1/RP19). Klin Monatsbl Augenheilkd 219:590-596 12353176
    • (2002) Klin. Monatsbl. Augenheilkd. , vol.219 , pp. 590-596
    • Rudolph, G.1    Kalpadakis, P.2    Haritoglou, C.3    Rivera, A.4    Weber, B.H.5
  • 15
    • 0034758592 scopus 로고    scopus 로고
    • Null missense ABCR (ABCA4) mutations in a family with Stargardt disease and retinitis pigmentosa
    • Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR (2001) Null missense ABCR (ABCA4) mutations in a family with Stargardt disease and retinitis pigmentosa. Invest Ophthalmol Vis Sci 42:2757-2761
    • (2001) Invest. Ophthalmol. Vis. Sci. , vol.42 , pp. 2757-2761
    • Shroyer, N.F.1    Lewis, R.A.2    Yatsenko, A.N.3    Lupski, J.R.4
  • 16
    • 0035510172 scopus 로고    scopus 로고
    • Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
    • 1:CAS:528:DC%2BD3MXptFGhur0%3D
    • Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR (2001) Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum Mol Genet 10:2671-2678 1:CAS:528:DC%2BD3MXptFGhur0%3D
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2671-2678
    • Shroyer, N.F.1    Lewis, R.A.2    Yatsenko, A.N.3    Wensel, T.G.4    Lupski, J.R.5
  • 17
    • 0033775698 scopus 로고    scopus 로고
    • Biochemical defects in ABCR protein variants associated with human retinopathies
    • Sun H, Smallwood PM, Nathans J (2000) Biochemical defects in ABCR protein variants associated with human retinopathies. Nat Genet 26:242-246
    • (2000) Nat. Genet. , vol.26 , pp. 242-246
    • Sun, H.1    Smallwood, P.M.2    Nathans, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.