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Varied pathological and therapeutic response effects associated with CHCHD2 mutant and risk variants
Autor:
Yi Zhao, Zul Haikhel Bin Zukifli, Zhi Dong Zhou, Rujing Wen, Shaoping Xie, Patrick Ho, Tong Wey Koh, Eng-King Tan, Murni Tio, Yih Lin Lim
Publikováno v:
Human mutation. 38(8)
Mutations and polymorphic risk variant of coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) have been associated with late-onset Parkinson disease. In vivo pathological evidence of CHCHD2 mutations is currently lacking. Utilizing trans