Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy-Reference-Cited by-同舟云学术

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

Published:2018-11-12 Issue:12 Volume:128 Page:5663-5675
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Burkard Markus,Kohl Susanne,Krätzig Timm,Tanimoto Naoyuki,Brennenstuhl Christina,Bausch Anne E.,Junger Katrin,Reuter Peggy,Sothilingam Vithiyanjali,Beck Susanne C.,Huber Gesine,Ding Xi-Qin,Mayer Anja K.,Baumann Britta,Weisschuh Nicole,Zobor Ditta,Hahn Gesa-Astrid^ORCID,Kellner Ulrich^ORCID,Venturelli Sascha,Becirovic Elvir,Charbel Issa Peter^ORCID,Koenekoop Robert K.,Rudolph Günther,Heckenlively John,Sieving Paul,Weleber Richard G.,Hamel Christian,Zong Xiangang,Biel Martin,Lukowski Robert,Seeliger Matthias W.,Michalakis Stylianos^ORCID,Wissinger Bernd,Ruth Peter

Funder

Deutsche Forschungsgemeinschaft, Germany

German Federal Ministry of Research and Education, Germany

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Link

https://www.jci.org/articles/view/96098/files/pdf

Reference88 articles.

1. Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel

2. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21