Two novel mutations of the glycine receptor gene in a Taiwanese hyperekplexia family
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical)
Cited by 32 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia;Medicine;2020-04
2. Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia;Journal of Clinical Neurology;2020
3. A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia;Journal of Neural Transmission;2018-09-04
4. Impaired Glycine Receptor Trafficking in Neurological Diseases;Frontiers in Molecular Neuroscience;2018-08-21
5. Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function;Frontiers in Molecular Neuroscience;2017-05-23
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