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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:PLoS One
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Public Library of Science 2018
विषय:
Research Article
ऑनलाइन पहुंच: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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