Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next-generation sequencing (NGS) has become an efficient tool to encounter the enormous genetic heterogeneity of diverse retinal...

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Publicado en:PLoS One
Autores principales: Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Müller, Philipp L., Holz, Frank G., Neuhaus, Christine, Lenzner, Steffen, Zahnleiter, Diana, Betz, Christian, Eisenberger, Tobias, Bolz, Hanno J., Charbel Issa, Peter
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6292620/
https://ncbi.nlm.nih.gov/pubmed/30543658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0207958
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