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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Clin Invest
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 2018
Pynciau:
Research Article
Mynediad Ar-lein: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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