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DNA测序证实的Wilson's病ATP7B基因第14外显子一种新型移码突变 |
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g tightly linked and flanking DNA markers. Neurology, 1991,41:992 [11]Bull PC, Thomas GR, Rommens JM, et al. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the menkes gene. Nature Genet, 1993,5:327 [12]Tanzi RE, Petrukhin K, Chermov Ⅰ, et al. The Wilson disease gene is a copper transporting ATPase with homology to the menker disease gene. Nature Gene, 1993,5:344 [13]Yamaguchi Y, Heiny MY, Gitlin JD, et al. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease.Biochem Biophys Res Commun, 1993,197:271 [14]徐评议,梁秀龄.肝豆状核变性基因突变研究.中国神经精神杂志,1998,24(1):12-13 [15]The human gene mutation database. http://www.uwcm.ac. uk/uwcm/mg/hgmd0. html, 1999/1/15 [16]Chu-NS; Hung-TP, Geographi variations in Wilson's disease. J Neurol Sci. 1993 Jul, 117(1-2):1-7
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