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Ophthalmic Genetics Volume 37, 2016 - Issue 1
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Mutation Report

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia

Satoshi KatagiriDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan, ;Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan, and
,
Takaaki HayashiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan, and Correspondence[email protected]
,
Kazutoshi YoshitakeLaboratory of DNA Data Analysis, National Institute of Genetics, Shizuoka, Japan
,
Masakazu AkahoriDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan,
,
Kazuho IkeoLaboratory of DNA Data Analysis, National Institute of Genetics, Shizuoka, Japan
,
Tamaki GekkaDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan, and
,
Hiroshi TsuneokaDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan, and
&
Takeshi IwataDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan,
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Pages 68-75 | Received 14 May 2014, Accepted 20 Jul 2014, Published online: 12 Aug 2014

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Bojana Radojevic, Kaylie Jones, Martin Klein, Margarita Mauro-Herrera, Ronald Kingsley, David G. Birch & Lea D. Bennett. (2021) Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1. Ophthalmic Genetics 42:1, pages 15-22.
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Arif O. Khan, Eva Decker, Nadine Bachmann, Hanno J. Bolz & Carsten Bergmann. (2016) C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Ophthalmic Genetics 37:3, pages 290-293.
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Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Yuri Sergeev, Masakazu Akahori, Masaaki Furuno, Jo Nishino, Kazuho Ikeo, Kazushige Tsunoda, Hiroshi Tsuneoka & Takeshi Iwata. (2015) Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). Ophthalmic Genetics 36:2, pages 137-144.
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Articles from other publishers (4)

Yu Liu, Jinjun Chen, Rachel Sager, Erika Sasaki & Huaiyu Hu. (2022) Interactions between C8orf37 and FAM161A, Two Ciliary Proteins Essential for Photoreceptor Survival. International Journal of Molecular Sciences 23:19, pages 12033.
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Katsuhiro Hosono, Sachiko Nishina, Tadashi Yokoi, Satoshi Katagiri, Hirotomo Saitsu, Kentaro Kurata, Daisuke Miyamichi, Akiko Hikoya, Kei Mizobuchi, Tadashi Nakano, Shinsei Minoshima, Maki Fukami, Hiroyuki Kondo, Miho Sato, Takaaki Hayashi, Noriyuki Azuma & Yoshihiro Hotta. (2018) Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. Scientific Reports 8:1.
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Takeshi Iwata. 2017. Advances in Vision Research, Volume I. Advances in Vision Research, Volume I 9 19 .
Kristy Lee & Seema Garg. (2015) Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies. Genetics in Medicine 17:4, pages 245-252.
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