Tay-sachs

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Tay-Sachs家族黑蒙性癡呆症溶酶体缺少氨基己糖酯酶A,导致神经节甘脂GM2积累,影响细胞功能,造成精神性痴呆

参考资料[编辑]

  • PLoS Genet. 2012 Sep;8(9):e1002943. doi: 10.1371/journal.pgen.1002943. Epub 2012
  • Sep 20.Characterization of inducible models of tay-sachs and related disease.
  • Sargeant TJ, Drage DJ, Wang S, Apostolakis AA, Cox TM, Cachón-González MB.