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...

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Detalles Bibliográficos
Autores principales: Heinonen, Tiina, Flegel, Thomas, Müller, Hanna, Kehl, Alexandra, Hundi, Sruthi, Matiasek, Kaspar, Fischer, Andrea, Donner, Jonas, Forman, Oliver P., Lohi, Hannes, Hytönen, Marjo K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Original Investigation
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

Internet

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

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