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  • High prevalence and breast cancer predisposing role of the BLM c.1642 C > T (Q548X) mutation in Russia
    [作者:Sokolenko, AP; Iyevleva, AG; Preobrazhenskaya, EV; Mitiushkina, NV; Abysheva, SN; Suspitsin, EN; Kuligina, ES; Gorodnova, TV; Pfeifer, W; Togo, AV; Turkevich, EA; Ivantsov, AO; Voskresenskiy, DV; Dolmatov, GD; Bit-Sava, EM; Matsko, DE; Semiglazov, VF; Fichtner, I; Larionov, AA; Kuznetsov, SG; Antoniou, AC; Imyanitov, EN,期刊:International Journal of Cancer, 页码:2867-2873 , 文章类型: Article,,卷期:2012年130-12]
  • The BLM gene belongs to the RecQ helicase family and has been implicated in the maintenance of genomic stability. Its homozygous germline inactivation causes Bloom syndrome, a severe genetic disorder characterized by gro...