Work

Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia

Year: 2022

Type: article

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2022.08.004

Authors: Qing Ke, Youcheng Zhao, Yuezhou Li, Jia Ye, Siyang Tang, Fangping He, Fang Ji, Xuejiao Dai, Jie Ni, Yi Li, Robert C. Griggs, Xiaoyang Cheng

Institutions: First Affiliated Hospital Zhejiang University, Zhejiang University, Zhejiang Provincial People's Hospital, Children's Hospital of Zhejiang University, University of Rochester Medicine, University of Rochester, Yale University, VA Connecticut Healthcare System

Language: English

Topic: Ion channel regulation and function

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Natural Science Foundation of China, Ministry of Science and Technology of the People's Republic of China, Zhejiang University, National Key Research and Development Program of China, Natural Science Foundation of Zhejiang Province

Awards: G2571534110, G3103457627, G6609440161, 机械敏感性离子通道Brv1和NOMPC的相互作用参与果蝇轻触觉感知的机制研究, G7154460070, G883531108

OpenAlex ID: W4292133256

FWCI: 0.138

Cites: 30

Cited by: 3

Related to: 10