## Abstract We report the identification of a novel Y228C mutation within the M1 transβmembrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree. Β© 2007 Movement Disorder Society
Hyperekplexia: Pedigree studies in two families
β Scribed by Hayashi, Takashi ;Tachibana, Hidetoshi ;Kajii, Tadashi
- Book ID
- 102702631
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 537 KB
- Volume
- 40
- Category
- Article
- ISSN
- 0148-7299
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