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Identification of a novel missenseGLRA1gene mutation in hyperekplexia: a case report

✍ Scribed by Emese Horváth,Katalin Farkas,Ágnes Herczegfalvi…

Book ID
126379943
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
557 KB
Volume
8
Category
Article
ISSN
1752-1947

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A novel GLRA1 mutation in a recessive hy
A novel GLRA1 mutation in a recessive hyperekplexia pedigree
✍ Rob J. Forsyth; Artemis D. Gika; Ieke Ginjaar; Marina A.J. Tijssen 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB

## 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