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A novel GLRA1 mutation in a recessive hyperekplexia pedigree

Lookup NU author(s): Dr Rob ForsythORCiD

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Abstract

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.

Publication metadata

Author(s): Forsyth RJ, Gika AD, Ginjaar I, Tijssen MAJ

Publication type: Article

Publication status: Published

Journal: Movement Disorders

Year: 2007

Volume: 22

Issue: 11

Pages: 1643-1645

ISSN (print): 0885-3185

ISSN (electronic): 1531-8257

Publisher: John Wiley & Sons, Inc.

URL: http://dx.doi.org/10.1002/mds.21574

DOI: 10.1002/mds.21574

PubMed id: 17534957

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