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Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones
Mutations in the photoreceptor-specific tetraspanin gene peripherin-2 (PRPH2) lead to widely varying forms of retinal degeneration ranging from retinitis pigmentosa to macular dystrophy. Both inter- and intra-familial phenotypic heterogeneity has led to much interest in uncovering the complex pathog...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10356684/ https://www.ncbi.nlm.nih.gov/pubmed/37466729 http://dx.doi.org/10.1007/s00018-023-04851-3 |