Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

Hereditary retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different forms of RD can be caused by mutations in >100 genes, including >1600 exons. Consequently, next generation sequencing (...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Glöckle, Nicola, Kohl, Susanne, Mohr, Julia, Scheurenbrand, Tim, Sprecher, Andrea, Weisschuh, Nicole, Bernd, Antje, Rudolph, Günther, Schubach, Max, Poloschek, Charlotte, Zrenner, Eberhart, Biskup, Saskia, Berger, Wolfgang, Wissinger, Bernd, Neidhardt, John
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2014
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3865404/
https://ncbi.nlm.nih.gov/pubmed/23591405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.72
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg