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A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature

BACKGROUND: The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1. This gene encodes the glycine receptor α1 subunit, which has an extracellular domain (ECD) and a transmembrane domain (TM...

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Detalles Bibliográficos
Autores principales:	Yang, Zhiliang, Sun, Guilian, Yao, Fang, Tao, Dongying, Zhu, Binlu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5631533/ https://www.ncbi.nlm.nih.gov/pubmed/28985719 http://dx.doi.org/10.1186/s12881-017-0476-6

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