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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: 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
Idioma:Inglês
Publicado em: Public Library of Science 2018
Assuntos:
Research Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados