Diagnostic application of clinical exome sequencing in Leber congenital amaurosis

PURPOSE: Leber congenital amaurosis (LCA) is a hereditary retinal dystrophy with wide genetic heterogeneity. Next-generation sequencing (NGS) targeting multiple genes can be a good option for the diagnosis of LCA, and we tested a clinical exome panel in patients with LCA. METHODS: A total of nine un...

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Publicat a:Mol Vis
Autors principals: Han, Jinu, Rim, John Hoon, Hwang, In Sik, Kim, Jieun, Shin, Saeam, Lee, Seung-Tae, Choi, Jong Rak
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2017
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Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5610811/
https://ncbi.nlm.nih.gov/pubmed/28966547
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