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Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7
Deletion of dystrobrevin binding protein 1 has been linked to Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous albinism and retinal dysfunction. We studied dysbindin-1 null mutant mice (Dys(−/−)) to shed light on retinal neurodevelopment defects in HPS-7. We a...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7055265/ https://www.ncbi.nlm.nih.gov/pubmed/32132582 http://dx.doi.org/10.1038/s41598-020-60931-5 |