Article
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
PloS one - 1 Jan 2016
Weisschuh Nicole, Mayer Anja K, Strom Tim M, Kohl Susanne, Glöckle Nicola, Schubach Max, Andreasson Sten, Bernd Antje, Birch David G, Hamel Christian P, Heckenlively John R, Jacobson Samuel G, Kamme Christina, Kellner Ulrich, Kunstmann Erdmute, Maffei Pietro, Reiff Charlotte M, Rohrschneider Klaus, Rosenberg Thomas, Rudolph Günther, Vámos Rita, Varsányi Balázs, Weleber Richard G, Wissinger Bernd
Abstract excerpt
Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies are among the most promising approaches to identify mutations in RD. We screened a large cohort of...
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