| Literature DB >> 23150357 |
Kornelia Neveling1, Anneke I den Hollander, Frans P M Cremers, Rob W J Collin.
Abstract
Inherited retinal diseases display a very high degree of clinical and genetic heterogeneity, which poses challenges in identifying the underlying defects in known genes and in identifying novel retinal disease genes. Here, we outline the state-of-the-art techniques to find the causative DNA variants, with special attention for next-generation sequencing which can combine molecular diagnostics and retinal disease gene identification.Entities:
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Year: 2013 PMID： 23150357 DOI： 10.1007/978-1-62703-080-9_1
Source DB: PubMed Journal: Methods Mol Biol ISSN： 1064-3745