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Volumn 42, Issue 6, 2001, Pages 1179-1189

An analysis of allelic variation in the ABCA4 gene

Author keywords

[No Author keywords available]

Indexed keywords

ATP BINDING TRANSPORTER PROTEIN; CARRIER PROTEIN; UNCLASSIFIED DRUG;

EID: 0035032384     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (189)

References (41)
  • 1
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    • Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific atp-binding cassette transporter responsible for Stargardt disease
    • (1999) J Biol Chem , vol.274 , pp. 8269-8281
    • Sun, H.1    Molda, R.S.2    Nathans, J.3
  • 3
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 4
    • 0031230154 scopus 로고    scopus 로고
    • Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
    • (1997) Nat Genet , vol.17 , pp. 15-16
    • Sun, H.1    Nathans, J.2
  • 18
    • 0033119609 scopus 로고    scopus 로고
    • Autosomal dominant Stargardt-like macular dystrophy, I: Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
    • (1999) Am J Ophthalmol , vol.127 , pp. 426-435
    • Edwards, A.O.1    Miedziak, A.2    Vrabec, T.3
  • 21
    • 0022924342 scopus 로고
    • Stargardt's disease and fundus flavimaculatus: Evaluation of morphologic progression and intrafamilial co-existence
    • (1986) Trans Am Ophthalmol Soc , vol.84 , pp. 453-487
    • Aaberg, T.M.1
  • 23
    • 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
    • (1999) J Med Genet , vol.36 , pp. 447-451
    • Rozet, J.M.1    Gerber, S.2    Ghazi, I.3
  • 34
    • 0033237315 scopus 로고    scopus 로고
    • The 2588g→c mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of abcr mutations in patients with Stargardt disease
    • (1999) Am J Hum Genet , vol.64 , pp. 1024-1035
    • Maugeri, A.1    Van Driel, M.A.2    Van De Poi, D.J.3
  • 37
    • 0033859128 scopus 로고    scopus 로고
    • Further evidence for an association of ABCR alleles with age-related macular degeneration
    • (2000) Am J Hum Genet , vol.67 , pp. 487-491
    • Allikmets, R.1
  • 41
    • 0032518518 scopus 로고    scopus 로고
    • Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes: The polymorphic (tg)m locus explains the partial penetrance of the t5 polymorphism as a disease mutation
    • (1998) J Clin Invest , vol.101 , pp. 487-496
    • Cuppens, H.1    Lin, W.2    Jaspers, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.