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

Mutations in CNGA3 and CNGB3, the genes encoding the subunits of the tetrameric cone photoreceptor cyclic nucleotide–gated ion channel, cause achromatopsia, a congenital retinal disorder characterized by loss of cone function. However, a small number of patients carrying the CNGB3/c.1208G>A;p.R40...

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Pubblicato in:J Clin Invest
Autori principali: 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, Kellner, Ulrich, Venturelli, Sascha, Becirovic, Elvir, Charbel Issa, Peter, 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, Wissinger, Bernd, Ruth, Peter
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2018
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6264655/
https://ncbi.nlm.nih.gov/pubmed/30418171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI96098
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