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A Dhdds K42E knock-in RP59 mouse model shows inner retina pathology and defective synaptic transmission
Retinitis pigmentosa (RP) defines a group of hereditary progressive rod-cone degenerations that exhibit a common phenotype caused by variants in over 70 genes. While most variants in the dehydrodolichyl diphosphate synthase (DHDDS) gene result in syndromic abnormalities, some variants cause non-synd...
Autores principales: | Nguyen, Mai N., Chakraborty, Dibyendu, Rao, Sriganesh Ramachandra, Onysk, Agnieszka, Radkiewicz, Mariusz, Surmacz, Liliana, Swiezewska, Ewa, Soubeyrand, Eric, Akhtar, Tariq A., Kraft, Timothy W., Sherry, David M., Fliesler, Steven J., Pittler, Steven J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10345138/ https://www.ncbi.nlm.nih.gov/pubmed/37443173 http://dx.doi.org/10.1038/s41419-023-05936-4 |
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