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Journal Abstract Search

153 related items for PubMed ID: 12048676

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  • 2. [Screening for point mutations in rhodopsin gene among one hundred Chinese patients with retinitis pigmentosa].
    Zhang X, Fu W, Pang CP, Yeung KY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Dec; 19(6):463-6. PubMed ID: 12476415
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  • 4. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL, Grimsby JL, Adams SM, McGee TL, Sweklo E, Pierce EA, Sandberg MA, Dryja TP.
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
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  • 6. Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.
    Chen LJ, Lai TY, Tam PO, Chiang SW, Zhang X, Lam S, Lai RY, Lam DS, Pang CP.
    Invest Ophthalmol Vis Sci; 2010 Apr; 51(4):2236-42. PubMed ID: 19933189
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  • 8. RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.
    Baum L, Chan WM, Yeung KY, Lam DS, Kwok AK, Pang CP.
    Hum Mutat; 2001 May; 17(5):436. PubMed ID: 11317367
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  • 11. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
    Jacobson SG, Cideciyan AV, Iannaccone A, Weleber RG, Fishman GA, Maguire AM, Affatigato LM, Bennett J, Pierce EA, Danciger M, Farber DB, Stone EM.
    Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1898-908. PubMed ID: 10845615
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  • 12. Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
    Kawamura M, Wada Y, Noda Y, Itabashi T, Ogawa S, Sato H, Tanaka K, Ishibashi T, Tamai M.
    Am J Ophthalmol; 2004 Jun; 137(6):1137-9. PubMed ID: 15183808
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  • 13. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
    Martinez-Gimeno M, Maseras M, Baiget M, Beneito M, Antiñolo G, Ayuso C, Carballo M.
    Hum Mutat; 2001 Jun; 17(6):520. PubMed ID: 11385710
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  • 15. [A study of PDE6B gene mutation and phenotype in Chinese cases with retinitis pigmentosa].
    Cui Y, Zhao KX, Wang L, Wang Q, Zhang W, Chen WY, Wang LM.
    Zhonghua Yan Ke Za Zhi; 2003 Jan; 39(1):28-32. PubMed ID: 12760810
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