Article
Whole-exome sequencing reveals a rare interferon gamma receptor 1 mutation associated with myasthenia gravis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2018
Qi Guoyan, Liu Peng, Gu Shanshan, Yang Hongxia, Dong Huimin, Xue Yinping
Abstract excerpt
Our study is aimed to explore the underlying genetic basis of myasthenia gravis. We collected a Chinese pedigree with myasthenia gravis, and whole-exome sequencing was performed on the two affected siblings and their parents. The candidate pathogenic gene was identified by bioinformatics filtering, which was further verified by Sanger sequencing. The homozygous mutation c.G40A (p.V14M) in interferon gamma...
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