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Lookup NU author(s): Dr Rob Forsyth
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We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree. © 2007 Movement Disorder Society.
Author(s): Forsyth RJ, Gika AD, Ginjaar I, Tijssen MAJ
Publication type: Article
Publication status: Published
Journal: Movement Disorders
ISSN (print): 0885-3185
ISSN (electronic): 1531-8257
Publisher: John Wiley & Sons, Inc.
PubMed id: 17534957
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