Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia-Reference-Cited by-同舟云学术

Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia

Published:2016-02-05 Issue:3 Volume:60 Page:187-197
ISSN:0021-5155
Container-title:Japanese Journal of Ophthalmology
language:en
Short-container-title:Jpn J Ophthalmol

Author:

Kuniyoshi Kazuki,Muraki-Oda Sanae,Ueyama Hisao,Toyoda Futoshi,Sakuramoto Hiroyuki,Ogita Hisakazu,Irifune Motohiro,Yamamoto Shuji,Nakao Akira,Tsunoda Kazushige,Iwata Takeshi,Ohji Masahito,Shimomura Yoshikazu

Funder

Grants-in-Aid for Scientific Research from the Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s10384-016-0424-6.pdf

Reference52 articles.

1. Alpern M, Falls HF, Lee GB. The enigma of typical total monochromacy. Am J Ophthalmol. 1960;50:996–1012.

2. Harrison R, Hoefnagel D, Hayward JN. Congenital total color blindness. A clinicopathological report. Arch Ophthalmol. 1960;64:685–92.

3. Andréasson S, Tornqvist K. Electroretinograms in patients with achromatopsia. Acta Ophthalmol (Copenh). 1991;69:711–6.

4. Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005;25:248–58.

5. Khan NW, Wissinger B, Kohl S, Sieving PA. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci. 2007;48:3864–71.

Cited by 11 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. Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia;Genetics in Medicine;2023-12

2. Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies;Biomedicines;2023-01-19

3. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia;Human Mutation;2022-04-14

4. Achromatopsia: Genetics and Gene Therapy;Molecular Diagnosis & Therapy;2021-12-03

5. Diseases associated with mutations in CNGA3: Genotype–phenotype correlation and diagnostic guideline;Progress in Molecular Biology and Translational Science;2019