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A novel GLRA1 mutation in a recessive hyperekplexia pedigree
Author(s) -
Forsyth Rob J.,
Gika Artemis D.,
Ginjaar Ieke,
Tijssen Marina A.J.
Publication year - 2007
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21574
Subject(s) - mutation , glycine receptor , phenotype , genetics , glycine , identification (biology) , biology , medicine , endocrinology , gene , amino acid , botany
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
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