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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Detalhes bibliográficos
Publicado no:Mol Vis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2018
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5937672/
https://ncbi.nlm.nih.gov/pubmed/29769798
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