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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926080/
https://www.ncbi.nlm.nih.gov/pubmed/27353947
http://dx.doi.org/10.1038/srep28755

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4926080/
https://www.ncbi.nlm.nih.gov/pubmed/27353947
http://dx.doi.org/10.1038/srep28755

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