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Journal Abstract Search

180 related items for PubMed ID: 9488274

  • 21. Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).
    Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF.
    Hum Mutat; 1999; 13(2):141-5. PubMed ID: 10094550
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  • 22. A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family.
    Chang W, Ding Q, Tang Z, Liu P, Jiang F, Ke T, Ren X, Wang Z, Liu J, Wang QK, Liu M.
    Mol Vis; 2007 Aug 30; 13():1548-54. PubMed ID: 17893654
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  • 25. [Novel RPGR gene mutation in a Chinese family with X-linked recessive retinitis pigmentosa].
    Li ZL, Zhuang WJ, Zhao W, Zhang XF, Wang J, Meng RH, Rong WN, Sheng XL.
    Zhonghua Yan Ke Za Zhi; 2011 Jun 30; 47(6):516-20. PubMed ID: 21914266
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  • 26. Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.
    Wegscheider E, Preising MN, Lorenz B.
    Graefes Arch Clin Exp Ophthalmol; 2004 Jun 30; 242(6):501-11. PubMed ID: 15173948
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  • 31. Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.
    Cehajic-Kapetanovic J, McClements ME, Whitfield J, Shanks M, Clouston P, MacLaren RE.
    JAMA Ophthalmol; 2020 Nov 01; 138(11):1151-1158. PubMed ID: 32970112
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  • 33. Visual Function in Carriers of X-Linked Retinitis Pigmentosa.
    Comander J, Weigel-DiFranco C, Sandberg MA, Berson EL.
    Ophthalmology; 2015 Sep 01; 122(9):1899-906. PubMed ID: 26143542
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  • 36. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.
    Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP.
    Invest Ophthalmol Vis Sci; 2013 Feb 19; 54(2):1411-6. PubMed ID: 23372056
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  • 37. Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
    Miano MG, Valverde D, Solans T, Grammatico B, Migliaccio C, Cirigliano V, DeBernardo C, Ventruto V, Meitinger T, Wright A, Del Porto G, Baiget M, D'Urso M, Ciccodicola A.
    Hum Mutat; 1998 Feb 19; 12(3):212-3. PubMed ID: 10651485
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