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  • Identification and functional characterization of the human EXT1 promoter region
    [作者:Jennes, I; Zuntini, M; Mees, K; Palagani, A; Pedrini, E; De Cock, G; Fransen, E; Berghe, WV; Sangiorgi, L; Wuyts, W,期刊:Gene, 页码:148-159 , 文章类型: Article,,卷期:2012年492-1]
  • Background: Mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2) cause the autosomal dominant disorder multiple osteochondromas (MO). This disease is mainly characterized by the appearance of multiple cartilage-capped p...
  • Frequency distribution of PRNP polymorphisms in the Pakistani population
    [作者:Imran, M; Mahmood, S; Hussain, R; Abid, NB; Lone, KP,期刊:Gene, 页码:186-194 , 文章类型: Article,,卷期:2012年492-1]
  • Prion diseases are neurodegenerative conditions caused by misfolding of a normal host-encoded prion protein (PrP(C)) into pathogenic scrapie prion protein (PrP(Sc)). In human prion diseases, the M129V prion protein polym...
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