Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Yu, Mullin Ho-Chung; Tsang, Mandy Ho-Yin; Lai, Sophie; Ho, Matthew Sai-Pong; Tse, Donald M. L.; Willis, Brooke; Kwong, Anna Ka-Yee; Chou, Yen-Yin; Lin, Shuan-Pei; Quinzii, Catarina M; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Kuo, Pao-Lin; Chan, Victor Chi-Man; Tsoi, Cheung; Chong, Shuk-Ching; Rodenburg, Richard J. T.; Smeitink, Jan; Mak, Christopher Chun-Yu; Yeung, Kit-San; Fung, Jasmine Lee-Fong; Lam, Wendy; Hui, Joannie; Lee, Ni-Chung; Fung, Cheuk‐Wing; Chung, Brian Hon-Yin

期刊名称npj Genomic Medicine
作者Yu, Mullin Ho-Chung; Tsang, Mandy Ho-Yin; Lai, Sophie; Ho, Matthew Sai-Pong; Tse, Donald M. L.; Willis, Brooke; Kwong, Anna Ka-Yee; Chou, Yen-Yin; Lin, Shuan-Pei; Quinzii, Catarina M; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Kuo, Pao-Lin; Chan, Victor Chi-Man; Tsoi, Cheung; Chong, Shuk-Ching; Rodenburg, Richard J. T.; Smeitink, Jan; Mak, Christopher Chun-Yu; Yeung, Kit-San; Fung, Jasmine Lee-Fong; Lam, Wendy; Hui, Joannie; Lee, Ni-Chung; Fung, Cheuk‐Wing; Chung, Brian Hon-Yin
卷第4卷
期第1期
电子ISSN2056-7944
文件大小1486.68KB
发表时间2019-12
DOI10.1038/s41525-019-0091-x

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Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese