Congenital Achromatopsia and Macular Atrophy Caused by a Novel RecessivePDE6CMutation (p.E591K)-Reference-Cited by-同舟云学术

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Congenital Achromatopsia and Macular Atrophy Caused by a Novel RecessivePDE6CMutation (p.E591K)

Published:2015-01-21 Issue:2 Volume:36 Page:137-144
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Katagiri Satoshi,Hayashi Takaaki,Yoshitake Kazutoshi,Sergeev Yuri,Akahori Masakazu,Furuno Masaaki,Nishino Jo,Ikeo Kazuho,Tsunoda Kazushige,Tsuneoka Hiroshi,Iwata Takeshi

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816810.2014.991932

Reference36 articles.

1. Clinical utility gene card for: Achromatopsia - update 2013

2. Electroretinograms in patients with achromatopsia

3. The Enigma of Typical Total Monochromacy*

4. Congenital Total Color Blindness

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia;Case Reports in Ophthalmology;2021-09-09

2. PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults;Investigative Opthalmology & Visual Science;2020-10-01

3. Novel Bi-allelic PDE6C Variant Leads to Congenital Achromatopsia;Iranian Biomedical Journal;2020-07-01

4. Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia;PLOS ONE;2017-11-13

5. CNGB3 mutations cause severe rod dysfunction;Ophthalmic Genetics;2017-09-20

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