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Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
Retinitis Pigmentosa (RP) is the most common form of inherited retinal dystrophy (IRD) characterized ultimately by photoreceptors degeneration. Exhibiting great clinical and genetic heterogeneity, RP can be inherited as an autosomal dominant (ad), autosomal recessive (ar) and X-linked (xl) disorder....
Autores principales: | Bravo-Gil, Nereida, González-del Pozo, María, Martín-Sánchez, Marta, Méndez-Vidal, Cristina, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291209/ https://www.ncbi.nlm.nih.gov/pubmed/28157192 http://dx.doi.org/10.1038/srep41937 |
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