A Novel Recessive Hyperekplexia Allele GLRA1 (S231R): Genotyping by MALDI-TOF Mass Spectrometry and Functional Characterisation as a Determinant of Cellular Glycine Receptor Trafficking

European Journal of Human Genetics - United Kingdom
doi 10.1038/sj.ejhg.5200779
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Genetics
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Springer Science and Business Media LLC

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