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Journal Abstract Search

473 related items for PubMed ID: 12224481

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  • 4. Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
    Xi Q, Li L, Traboulsi EI, Wang QK.
    Mol Vis; 2009; 15():638-45. PubMed ID: 19352439
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  • 5. [Inherited retinal diseases in patients with ABCA4 gene mutations].
    Sheremet NL, Grushke IG, Zhorzholadze NV, Tanas AS, Strelnikov VV.
    Vestn Oftalmol; 2018; 134(4):68-73. PubMed ID: 30166513
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  • 9. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
    Klevering BJ, Maugeri A, Wagner A, Go SL, Vink C, Cremers FP, Hoyng CB.
    Ophthalmology; 2004 Mar; 111(3):546-53. PubMed ID: 15019334
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  • 16. Biochemical defects in ABCR protein variants associated with human retinopathies.
    Sun H, Smallwood PM, Nathans J.
    Nat Genet; 2000 Oct; 26(2):242-6. PubMed ID: 11017087
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  • 18. ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.
    Fukui T, Yamamoto S, Nakano K, Tsujikawa M, Morimura H, Nishida K, Ohguro N, Fujikado T, Irifune M, Kuniyoshi K, Okada AA, Hirakata A, Miyake Y, Tano Y.
    Invest Ophthalmol Vis Sci; 2002 Sep; 43(9):2819-24. PubMed ID: 12202497
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