Genomic approaches for the discovery of genes mutated in inherited retinal degeneration

In view of their high degree of genetic heterogeneity, inherited retinal diseases (IRDs) pose a significant challenge for identifying novel genetic causes. Thus far, more than 200 genes have been found to be mutated in IRDs, which together contain causal variants in >80% of the cases. Accurate ge...

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Veröffentlicht in:	Cold Spring Harbor perspectives in medicine 2014-08, Vol.4 (8), p.a017137-a017137
Hauptverfasser:	Siemiatkowska, Anna M, Collin, Rob W J, den Hollander, Anneke I, Cremers, Frans P M
Format:	Artikel
Sprache:	eng
Schlagworte:	DNA Copy Number Variations - genetics Exome - genetics Gene Expression Profiling - methods Gene Frequency - genetics Genetic Linkage - genetics Genetic Techniques Genetic Testing - methods Genome-Wide Association Study - methods Genomics - methods Humans Mutation - genetics Retinal Degeneration - genetics
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