Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese
Lee, Han-Chih Hencher; Wong, Shun; Leung, Frank Ying-Kit; Ho, Luen-Cheung; Chan, Siu-Ki Timothy; Fung, Tsui-Hang Sharon; Kwan, Kwok-Fan; Yau, Kin-Cheong Eric; Li, Ka-Wah; Yau, Wai-Nang; Leung, Hoi-Ki Cynthia; Chen, Sammy Pak-Lam; Mak, Chloe Miu
- 期刊名称Journal of Neuropathology & Experimental Neurology
- 作者Lee, Han-Chih Hencher; Wong, Shun; Leung, Frank Ying-Kit; Ho, Luen-Cheung; Chan, Siu-Ki Timothy; Fung, Tsui-Hang Sharon; Kwan, Kwok-Fan; Yau, Kin-Cheong Eric; Li, Ka-Wah; Yau, Wai-Nang; Leung, Hoi-Ki Cynthia; Chen, Sammy Pak-Lam; Mak, Chloe Miu
- 印刷ISSN0022-3069
- 电子ISSN1554-6578
- 文件大小2662.77KB
- 发表时间2019-07-30
- DOI10.1093/jnen/nlz056