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先天性静止性夜盲家系视紫红质基因的体外扩增分析 被引量:1

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出处 《中华眼底病杂志》 CAS CSCD 1993年第2期66-69,T006,共5页 Chinese Journal of Ocular Fundus Diseases
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  • 1Gross AK, Rao VR, Oprian DD. Characterization of rhodopsin congenital night blindness mutant T94I. Biochemistry,2003,42 (7):2009-2015.
  • 2Sieving PA, Richards J, Bingham E, et al. Dominant congenital complete nyctalopia and Gly90Asp rhodopsin mutation. Invest Ophthalmol Vis Sci,1992, 32:927.
  • 3Rao V, Cohen G, Oprian D. Rhodopsin mutation G90D and a molecular mechanism for congenital stationary night blindness.Nature, 1994, 367: 639-642.
  • 4Gross AK, Xie G, Oprian DD. Slow binding of retinal to rhodopsin mutants G90D and T94D. Biochemistry, 2003, 42(7):2002-2008.
  • 5al-Jandal N, Farrar GJ, Kiang AS, et al. A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness. Hum Mutat, 1999, 13:75-81.
  • 6Polo AD, Farber DB. Rod photoreceptor-specific gene expression in human retinoblastoma cells. Proc Natl Acad Sci USA, 1995, 92:4016-4020.
  • 7http://www.retina-international.org/sci-news/pdemut.htm.
  • 8Sidiki SS, Hamilton R, Dutton GN. Fear of the dark in children: is stationary night blindness the cause? BMJ, 2003, 326:211-212.
  • 9Calvert PD, Krasnoperova NV, Lyubarsky AL, et al.Phototransduction in transgenic mice Mter targeted deletion of the rod transducin a-subunit. Proc Natl Acad Sci USA, 2000, 97(25):13913-13918.
  • 10ht tp://www.retina-international.org/sci-news/gntmut.htm.

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