Human Genome Epidemiology Literature Finder
Records 1 - 2 (of 2 Records) |
Query Trace: Retinal Degeneration and CDHR1[original query] |
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Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies. Molecular vision 2016 22 150-60. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping. Investigative ophthalmology & visual science 2019 8 60 (10): 3388-3397. Charbel Issa Peter, Gliem Martin, Yusuf Imran H, Birtel Johannes, Müller Philipp L, Mangold Elisabeth, Downes Susan M, MacLaren Robert E, Betz Christian, Bolz Hanno |
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