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视网膜色素变性相关基因研究进展 被引量:2

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出处 《中国生育健康杂志》 2003年第4期251-253,共3页 Chinese Journal of Reproductive Health
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参考文献20

  • 1Pagon R A, Daiger S P. Reitnitis pigmentosa overview. Gene Clinics, 2000, 78.
  • 2Van Soest S, Westerveld A, De Jong PTVM, et al. Retinitis pigmentosa: defined from a molecular point of view. Surv Ophthal mol, 1999, 43: 321-334.
  • 3Dryja TP, Kajiwara K, Hahn LB, et al. Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa. Invest Ophthalmol Vis Sci, 1997, 38: 1972-1982.
  • 4Goldberg A F, Molday R S. Defective subunit assembly underlies a digenic form of retinitis pigmentosa lined to mutations in peripherin/rds and rom-1. Proc Natl Sci USA,1996, 93: 13726-13730.
  • 5Bowne S J, Daiger S P, Hims M M, et al. Mutation in the RPlgene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet, 1999, 8(11): 2121-2128.
  • 6Pierce EA. A novel photoreceptor gene is a candidate disease gene for RP. Invest Ophthalmol Vis Sci, 1999, 40: s602.
  • 7Freund C L, Wang Q L, Chen S, et al. De novo mutations in the CRX homeobox gene associated with Leber congential a maurosis. Nature Genet, 1998, 18: 311-312.
  • 8Bessant D A, Payne A M, Plant C, et al. NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies. Eur J Hum Genet, 2000, 8(10): 783-787.
  • 9McLaughlin ME, Sandberg MA, Berson EL, et al. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet, 1993, 4: 130-134.
  • 10Dryja TP, Finn JT, Peng YW, et al. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc Natl Acad Sci USA, 1995, 92: 10177-10181.

同被引文献26

  • 1王沙燕,张阮章,石之,任莉莉,任景慧.一个视网膜色素变性家系的视紫红质基因突变分析[J].中华医学遗传学杂志,2005,22(2):192-194. 被引量:4
  • 2[8]萨姆布鲁克 J,拉塞尔 D W. 分子克隆试验指南 [M]. 黄培堂,王嘉玺,朱厚础,等译.第3版.北京:科学出版社, 2002.
  • 3[3]HAN DM,WANG NL.Recent Advances in Ophthalmology[M].Beijing People's Medical Publishing House,2002:350.Chinese
  • 4[4]SHI ZL,WANG SY,DAI Y.Advances in Retinitis Pigmentosa Associated Gene Research[J].Chinese Journal of Reproductive Health,2003,14(4):251.Chinese
  • 5[5]WANG DY,CHAN WM,TAM POS,et al.Gene mutations in retinitis pigmentosa and their clinical implications[J].Clin Chim Acta,2005,351(1-2):5-16.
  • 6[6]DRYJA TP,LI T.Molecular genetics of retinitis pigmentosa[J].Hum Mol Genet,1995,4(9):1739-1743.
  • 7[7]RetNet,http://www.sph.uth.tmc.edu/retnet/,[2006-03-08].
  • 8[8]YANG ZL,PEACHEY NS,MOSHFEGHI DM,et al.Mutations in the RPGR gene cause X-linked cone dystrophy[J].Hum Mol Genet,2002,11(5):605-611.
  • 9[9]SAMBROOK J,RUSSELL DW.Molechlar Cloning:A Laboratory Manual[M],3rd ed.Beijing:Science Publishing House,2002:91-92.Chinese
  • 10[10]CAPEANS C,BLANCO MJ,LAREU MV,et al.Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa:phenotype-genotype correlation[J].Clin Genet,1998,54(1):26-32.

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