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Expanding the phenotypic spectrum in RDH12-associated retinal disease

Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. Alterations in activity of this protein result in photoreceptor death and decreased vision beginning at an early age and progressing to substantial vision loss later in life. Here we...

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Detalles Bibliográficos
Autores principales:	Scott, Hilary A., Place, Emily M., Ferenchak, Kevin, Zampaglione, Erin, Wagner, Naomi E., Chao, Katherine R., DiTroia, Stephanie P., Navarro-Gomez, Daniel, Mukai, Shizuo, Huckfeldt, Rachel M., Pierce, Eric A., Bujakowska, Kinga M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2020
Materias:	Research Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996522/ https://www.ncbi.nlm.nih.gov/pubmed/32014858 http://dx.doi.org/10.1101/mcs.a004754

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