Work

Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene

Year: 2012

Type: article

Study design: Case Report

Source: Eye

DOI: 10.1038/eye.2012.80

Authors: H Du, S R Grob, L Zhao, J Lee, M El-Sahn, G Hughes, J Luo, K Schaf, Y Duan, J Quach, X Wei, P Shaw, D Granet, K Zhang

Institutions: Xijing Hospital, Air Force Medical University, University of California San Diego, Peking University

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: bronze

Funders: Research to Prevent Blindness, National Institutes of Health, University of California, San Diego, National Eye Institute, National Center for Research Resources

Awards: G1668762682, G1704428530, Genetics and Functional Studies of Age-Related Macular Degeneration, G3616307248, San Diego Clinical and Translational Research Institute, G5437298770, G6708542438

OpenAlex ID: W2010183635

FWCI: 0.383

Cites: 19

Cited by: 11

Related to: 10