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Wilson病的ATP7B基因突变研究进展

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出处 《中国实用神经疾病杂志》 2008年第2期150-152,共3页 Chinese Journal of Practical Nervous Diseases
基金 安徽省科技攻关课题(编号:06013057A)
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二级参考文献31

  • 1吴志英,王柠,慕容慎行,林珉婷.Identification and analysis of mutations of the Wilson disease gene in Chinese population[J].Chinese Medical Journal,2000(1):40-43. 被引量:9
  • 2张如旭,唐北沙,资晓宏,罗巍,夏昆,潘乾,龙志高,胡正茂,李小波.腓骨肌萎缩症GDAP1基因突变分析[J].中华医学遗传学杂志,2004,21(3):207-210. 被引量:21
  • 3徐评议,梁秀龄,刘焯霖,潘锡榜.中国人D_13S_31位点多态性及与肝豆状核变性的连锁关系[J].中山医科大学学报,1995,16(1):17-21. 被引量:4
  • 4Bull PC, Thomas GR, Rommens JM, et al. The Wilson disease gene is a putative coppertransporting P-type ATPase similar to the menkes gene[J]. Nature Genet,1993,5:327.
  • 5Thomas GR,Forbes JR,Roberts EA,et al. The Wilson disease gene: spectrum of mutation and their consequences[J]. Nature Genet,1995,9:210.
  • 6Miller SA,Dykes DD,Polesky HF.A simple salting out procedure for extracting DNA from human nucleated cells[J].Nucleic Acids Res,1988,16(3):1215.
  • 7Chuang LM Wu HP,Jang MH,et al. High frequency of two mutations in coden 778 in exon 8 of the ATP7B gene in Taiwan Residents families with Wilson disease[J]. J Med Genet,1996,33:521.
  • 8Thomas GR,Forbes JR,Roberts EA, et al. The Wilson disease gene spectrum of mutations and their consequences [J]. Nat Genet, 1995,9(2):210
  • 9Loudianos G, Kostic V, Solinas P, et al. Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia [J]. Genet Test, 2003, 7(2):107
  • 10Yoo HW.Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease [J]. Genet Med,2002,4(6 suppl):43

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