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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Retinal Degeneration and CDHR1[original query]
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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