Article
Mutation of the cellular adhesion molecule NECL2 is associated with neuromyelitis optica spectrum disorder.
Journal of the neurological sciences - 15 May 2018
Xu Yan, Li Liang, Ren Hai-Tao, Yin Bin, Yuan Jian-Gang, Peng Xiao-Zhong, Qiang Bo-Qin, Cui Li-Ying
Abstract excerpt
AIMS: To investigate the association of the Nectin/Necl family genes with the risk of developing NMOSD. METHODS: Whole-exome sequencing was performed on two familial NMOSD cases and two unaffected family members. Additionally, 106 patients with sporadic NMOSD and 212 healthy controls (HCs) underwent screening for mutant Necl2. Finally, the molecular weight and cellular localization of mutant NECL2 was examined in...
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