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Novel mutation in GLRB in a large family with hereditary hyperekplexia

✍ Scribed by M Al-Owain; D Colak; A Al-Bakheet; N Al-Hashmi; T Shuaib; A Al-Hemidan; H Aldhalaan; Z Rahbeeni; M Al-Sayed; B Al-Younes; PT Ozand; N Kaya

Book ID
115091944
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
791 KB
Volume
81
Category
Article
ISSN
0009-9163

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πŸ“œ SIMILAR VOLUMES

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 πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 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. Β© 2007 Movement Disorder Society