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Article

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.

Genes - 20 Aug 2021

Song Fei, Owczarek-Lipska Marta, Ahmels Tim, Book Marius, Aisenbrey Sabine, Menghini Moreno, Barthelmes Daniel, Schrader Stefan, Spital Georg, Neidhardt John

Abstract excerpt

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 understanding disorders and may lead to the development of therapeutic approaches. Here, we established a whole exome...

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Identifiers

PMID: 34440443
DOI: 10.3390/genes12081269
PMCID: PMC8391535

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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