High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

Retinal dystrophies (RD) are clinically and genetically heterogenous disorders showing mutations in over 270 disease-associated genes. Several millions of people worldwide are affected with different types of RD. Studying the relevance of disease-associated sequence alterations will assist in unders...

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Bibliographic Details
Main Authors: Fei Song, Marta Owczarek-Lipska, Tim Ahmels, Marius Book, Sabine Aisenbrey, Moreno Menghini, Daniel Barthelmes, Stefan Schrader, Georg Spital, John Neidhardt
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
retinal dystrophy
mutations
novel variant
whole exome sequencing
Sanger sequencing
deep-intronic variants
Online Access:https://www.mdpi.com/2073-4425/12/8/1269

Internet

https://www.mdpi.com/2073-4425/12/8/1269

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