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Volumn 106, Issue 2, 2000, Pages 244-248

Complex inheritance of ABCR mutations in Stargardt disease: Linkage disequilibrium, complex alleles, and pseudodominance

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOTE; HUMAN; HUMAN CELL; INHERITANCE; MAJOR CLINICAL STUDY; MALE; NORTH AMERICA; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POPULATION GENETICS; PRIORITY JOURNAL; RECESSIVE INHERITANCE; STARGARDT DISEASE;

EID: 0034058085     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051034     Document Type: Article
Times cited : (35)

References (13)
  • 3
    • 0030983124 scopus 로고    scopus 로고
    • The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)
    • Azarian SM, Travis GH (1997) The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). FEBS Lett 409:247-252
    • (1997) FEBS Lett , vol.409 , pp. 247-252
    • Azarian, S.M.1    Travis, G.H.2
  • 6
    • 0030969303 scopus 로고    scopus 로고
    • The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily
    • Illing M, Molday LL, Molday RS (1997) The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J Biol Chem 272:10303-10310
    • (1997) J Biol Chem , vol.272 , pp. 10303-10310
    • Illing, M.1    Molday, L.L.2    Molday, R.S.3
  • 10
    • 0032421235 scopus 로고    scopus 로고
    • Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald lecture
    • Molday RS (1998) Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald Lecture. Invest Ophthalmol Vis Sci 39:2493-2513
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 2493-2513
    • Molday, R.S.1
  • 11
    • 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, Singh N, Dean M, Leppert M, Lupski JR (1999) The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial. Vision Res 39:2537-2544
    • (1999) Vision Res , vol.39 , pp. 2537-2544
    • Shroyer, N.F.1    Lewis, R.A.2    Allikmets, R.3    Singh, N.4    Dean, M.5    Leppert, M.6    Lupski, J.R.7
  • 12
    • 0000761427 scopus 로고    scopus 로고
    • Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease
    • Sun H, Molday RS, Nathans J (1999) Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem 274:8269-8281
    • (1999) J Biol Chem , vol.274 , pp. 8269-8281
    • Sun, H.1    Molday, R.S.2    Nathans, J.3
  • 13
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice
    • Weng J, Mata NL, Azarian SM, Tzekov RT, Birch DG, Travis GH (1999) Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. Cell 98:13-23
    • (1999) Cell , vol.98 , pp. 13-23
    • Weng, J.1    Mata, N.L.2    Azarian, S.M.3    Tzekov, R.T.4    Birch, D.G.5    Travis, G.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.