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肝豆状核变性基因全长外显子的DNA测序研究 被引量:2

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出处 《云南大学学报(自然科学版)》 CAS CSCD 1999年第S3期328-329,共2页 Journal of Yunnan University(Natural Sciences Edition)
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  • 1赵鹏,张本恕.肝豆状核变性ATP7B基因Arg778Leu突变型与临床表现的相关性研究[J].脑与神经疾病杂志,2007,15(2):104-105. 被引量:4
  • 2Loudianos G, Lovicu M, Solieas P, et aL. Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations[J]. genet Test,2000,4(4) :399-402. 被引量:1
  • 3Tarnacka B,Gromadzka G,Rodo M, et al. Frequency of His1069 Gln and Gly1267 Lys mutations in Polish Wilson's disease population[J].Eur J Neuro1,2000,7(5) :495-498. 被引量:1
  • 4Butler P, McIntyre N, Mistry PK. Molecular diagnosis of Wilson disease[J]. Mol Genet Metab, 2001,72 (3) : 223-230. 被引量:1
  • 5Caca K, Ferenci P, Kuhn HJ, et al. High prevalence of the HI069Q mutation in East German patients with Wilson disease : rapid detection of mutations by limited sequencing and phenotypa-genotype analysis[J] .J Hepatol,2001,35(5) :575-581. 被引量:1
  • 6Loudianos 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) : 107-112. 被引量:1
  • 7Firoeisz G, Lakatos PL, Szalay F, et al. Common mutations of ATP7B in Wilson disease patients from Hungary[J]. Am J Med Genet,2002,108( 1 ) :23-28. 被引量:1
  • 8Xu P, Liang X, Jankovic J, et al. Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR [ J ]. Arch Neurol, 2001,58 ( 11 ) :1879-1882. 被引量:1
  • 9Palsson R, Jonasson JG, Kristjansson M, et al. Genotype-phenotype interactions in Wilson' s disease : insight from an Icelandic mutation [ J ].Eur J Gastroenterol Hepatol,2001,13(4) :433-436. 被引量:1
  • 10Tarnacka B,Gromadzka G,Rodo M, et al. Frequency of His1069 Gln and Gly1267 Lys mutations in Polish Wilson's disease population[J].Eur J Neurol,2000,7(5) :495-498. 被引量:1

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