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Identification of a novel missense GLRA1 gene mutation in hyperekplexia: a case report
INTRODUCTION: Hereditary hyperekplexia is a neurological disorder characterized by excessive startle responses with violent jerking to noise or touch, stiffening of the trunk and limbs, clenching of the fists and attacks of a high-frequency trembling. Hyperekplexia has a heterogeneous genetic backgr...
Tallennettuna:
| Päätekijät: | , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BioMed Central
2014
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4096538/ https://ncbi.nlm.nih.gov/pubmed/24969041 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-8-233 |
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