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A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia
Hereditary hyperekplexia is a rare neuronal disorder characterized by an exaggerated startle response to sudden tactile or acoustic stimuli. In this study, we present a Miniature Australian Shepherd family showing clinical signs, which have genetic and phenotypic similarities with human hereditary h...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449970/ https://www.ncbi.nlm.nih.gov/pubmed/37222814 http://dx.doi.org/10.1007/s00439-023-02571-z |