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原发性视网膜色素变性1家系

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出处 《中国中医眼科杂志》 2005年第3期169-170,共2页 China Journal of Chinese Ophthalmology
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  • 2Chapple JP, Hardcastle AJ, Grayson C,et al. Mutations in the Nterminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.Hum Mol Genet, 2000, 9(13):1919-1926.
  • 3Reeves PJ, Hwa J, Khorana HG. Structure and function in rhodopsin:kinetic studies of retinal binding to purified opsin mutants in defined phospholipid-detergent mixtures serve as probes of the retinal binding pocket. Proc Natl Acad Sci USA, 1999,96:1927-1
  • 4Hwa J, Klein-Seetharaman J, Khorana HG. Structure and function in rhodopsin: Mass spectrometric identification of the abnormal intradiscal disulfide bond in misfolded retinitis pigmentosa mutants.Proc Nstl Acad Sci USA, 2001, 98(9):4872-4876.
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  • 6Bowne SJ, Daiger SP, Hims MM, et al. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet,1999, 8(11) :2121-2128.
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  • 10Linari M, Hanzal-Bayer M,Becker J. The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific manner. FEBS Lett, 1999,458(1) :55-59.

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