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Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

SK Chung, JF Vanbellinghen, JGL Mullins, Rhys Thomas

J Neuroscience, Pages: 9612 - 20

Swansea University Author: Rhys Thomas

Published in: J Neuroscience
Published: J Neuroscience 2010
URI: https://cronfa.swan.ac.uk/Record/cronfa9989
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Item Description: Rhys is the sole internal clinician for this paper which produced some genotype-phenotype correlations.The electrophysiological and modelling conclusions are only valid in the context of robust phenotypic evaluation.
College: Swansea University Medical School
Start Page: 9612
End Page: 20