𝔖 Bobbio Scriptorium
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0890 A new gene that causes hyperekplexia

Book ID
121937469
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
128 KB
Volume
238
Category
Article
ISSN
0022-510X

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πŸ“œ SIMILAR VOLUMES

Recessive hyperekplexia due to a new mut
Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene
✍ Eliecer Coto; Daniel Armenta; RaΓΊl Espinosa; JoaquΓ­n Argente; MΓ³nica G. Castro; πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 65 KB

## Abstract Hyperekplexia is commonly familial and with dominant transmission. The gene involved, __GLRA1,__ encodes the Ξ±1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, t