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Volumn 43, Issue 6, 2002, Pages 1980-1985

Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMPLITUDE MODULATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; B WAVE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COLOR VISION DEFECT; CONTROLLED STUDY; ELECTRORETINOGRAM; FEMALE; GENE; GENE ABCA4; GENE MUTATION; HUMAN; MALE; MOLECULAR BIOLOGY; NIGHT VISION; OPHTHALMOSCOPY; PHENOTYPE; PHOTOPIC VISION; PRIORITY JOURNAL; RETINA CONE; RETINA DEGENERATION; RETINA DYSTROPHY; RETINA MACULOPATHY; RETINA ROD; VISUAL IMPAIRMENT;

EID: 0036275421     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (57)

References (39)
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  • 9
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    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 11
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    • The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
    • (1997) FEBS Lett , vol.409 , pp. 247-252
    • Azarian, S.M.1    Travis, G.H.2
  • 15
    • 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
  • 17
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.