Col4a1.

Erin Boland1, Anna Hoyle2, Olivia Robertson-Gray1

  • 1University of Glasgow, School of Cardiovascular and Metabolic Health, Glasgow, United Kingdom.

概括

第四类原蛋白 (COL4A1) 的突变会导致古尔德综合征,导致心肌细胞缩和纤维化等心脏缺陷. 这项研究揭示了底层膜缺陷,而不是蛋白质错折,在这种情况下驱动心脏功能障碍.

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