Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies

PURPOSE: To investigate the efficacy of targeted exome sequencing for mutational screening of Japanese patients with cone dystrophy (CD) or cone-rod dystrophy (CRD). METHODS: DNA samples from 43 Japanese patients with CD or CRD were sequenced using an exome-sequencing panel targeting all 193 known i...

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Udgivet i:Mol Vis
Main Authors: Oishi, Maho, Oishi, Akio, Gotoh, Norimoto, Ogino, Ken, Higasa, Koichiro, Iida, Kei, Makiyama, Yukiko, Morooka, Satoshi, Matsuda, Fumihiko, Yoshimura, Nagahisa
Format: Artigo
Sprog:Inglês
Udgivet: Molecular Vision 2016
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Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4764614/
https://ncbi.nlm.nih.gov/pubmed/26957898
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