A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature
Abstract 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 do...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2017-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |