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Ophthalmic Genetics Volume 36, 2015 - Issue 2
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Research Report

Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K)

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,
,
Takaaki HayashiDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan, Correspondence[email protected]
,
Kazutoshi YoshitakeLaboratory of DNA Data Analysis, National Institute of Genetics, Shizuoka, Japan,
,
Yuri SergeevNational Eye Institute, National Institutes of Health, Bethesda, MD, USA,
,
Masakazu AkahoriDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan,
,
Masaaki FurunoRIKEN Center for Life Science Technologies, Division of Genomic Technologies, Life Science Accelerator Technology Group, Transcriptome Technology Team, Yokohama, Japan, and
,
Jo NishinoLaboratory of DNA Data Analysis, National Institute of Genetics, Shizuoka, Japan,
,
Kazuho IkeoLaboratory of DNA Data Analysis, National Institute of Genetics, Shizuoka, Japan,
,
Kazushige TsunodaLaboratory of Visual Physiology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan
,
Hiroshi TsuneokaDepartment of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan,
&
Takeshi IwataDivision of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan,
show all
Pages 137-144 | Received 28 Sep 2014, Accepted 15 Nov 2014, Published online: 21 Jan 2015

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J. Maguire, M. McKibbin, K. Khan, S. Kohl, M. Ali & D. McKeefry. (2018) CNGB3 mutations cause severe rod dysfunction. Ophthalmic Genetics 39:1, pages 108-114.
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Articles from other publishers (8)

Emma C. Bedoukian, Xiaosong Zhu, Leona W. Serrano, Drew Scoles & Tomas S. Aleman. (2020) NMNAT1-ASSOCIATED CONE–ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT. RETINAL Cases & Brief Reports 16:3, pages 385-392.
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Malena Daich Varela, Ehsan Ullah, Sairah Yousaf, Brian P. Brooks, Robert B. Hufnagel & Laryssa A. Huryn. (2020) PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Investigative Opthalmology & Visual Science 61:12, pages 1.
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Ata Bushehri, Davood Zare-Abdollahi, Hesam Hashemian, Ladan Safavizadeh, Jalil Effati & Hamid Reza Khorram Khorshid. (2020) Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia. Iranian Biomedical Journal 24:4, pages 257-263.
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Xufeng Dai, Ying He, Hua Zhang, Yangyang Zhang, Yan Liu, Muran Wang, Hao Chen & Ji-jing Pang. (2017) Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia. PLOS ONE 12:11, pages e0188032.
Crossref
Takeshi Iwata. 2017. Advances in Vision Research, Volume I. Advances in Vision Research, Volume I 9 19 .
Takaaki Hayashi. 2017. Advances in Vision Research, Volume I. Advances in Vision Research, Volume I 129 135 .
Kazuki Kuniyoshi, Sanae Muraki-Oda, Hisao Ueyama, Futoshi Toyoda, Hiroyuki Sakuramoto, Hisakazu Ogita, Motohiro Irifune, Shuji Yamamoto, Akira Nakao, Kazushige Tsunoda, Takeshi Iwata, Masahito Ohji & Yoshikazu Shimomura. (2016) Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. Japanese Journal of Ophthalmology 60:3, pages 187-197.
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David M. Hunt & Livia S. Carvalho. 2016. Human Color Vision. Human Color Vision 1 32 .

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