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Genetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing

11 Oct 2013

Abstract excerpt

Inherited retinal degenerative diseases (RDDs) display wide variation in their mode of inheritance, underlying genetic defects, age of onset, and phenotypic severity. Molecular mechanisms have not been delineated for many retinal diseases, and treatment options are limited. In most instances, genotype-phenotype correlations have not been elucidated because of extensive clinical and genetic heterogeneity....

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PMID: 24112618
DOI: 10.1186/gm488

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