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Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies

Inherited monogenic diseases of the retina and vitreous affect approximately 1 in 2000 individuals. They are characterized by tremendous genetic heterogeneity and clinical variability involving mutations in approximately 250 genes and more than 20 different clinical phenotypes. Clinical manifestatio...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Tiwari, Amit, Bahr, Angela, Bähr, Luzy, Fleischhauer, Johannes, Zinkernagel, Martin S., Winkler, Niklas, Barthelmes, Daniel, Berger, Lieselotte, Gerth-Kahlert, Christina, Neidhardt, John, Berger, Wolfgang
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4926080/
https://ncbi.nlm.nih.gov/pubmed/27353947
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep28755
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