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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...

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Detalles Bibliográficos
Autores principales:	Romano, Giovanni Luca, Platania, Chiara Bianca Maria, Leggio, Gian Marco, Torrisi, Sebastiano Alfio, Giunta, Salvatore, Salomone, Salvatore, Purrello, Michele, Ragusa, Marco, Barbagallo, Cristina, Giblin, Frank J., Mastrogiacomo, Rosa, Managò, Francesca, Cammalleri, Maurizio, Papaleo, Francesco, Drago, Filippo, Bucolo, Claudio
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
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

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