Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy

PURPOSE: The aim of this study was to identify the molecular genetic basis of cone-rod dystrophy in 18 unrelated families of Polish origin. Cone-rod dystrophy is one of the inherited retinal dystrophies, which constitute a highly heterogeneous group of disorders characterized by progressive dysfunct...

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Detalles Bibliográficos
Autores principales: Wawrocka, Anna, Skorczyk-Werner, Anna, Wicher, Katarzyna, Niedziela, Zuzanna, Ploski, Rafal, Rydzanicz, Malgorzata, Sykulski, Maciej, Kociecki, Jaroslaw, Weisschuh, Nicole, Kohl, Susanne, Biskup, Saskia, Wissinger, Bernd, Krawczynski, Maciej R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937672/
https://www.ncbi.nlm.nih.gov/pubmed/29769798

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937672/
https://www.ncbi.nlm.nih.gov/pubmed/29769798

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