Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using homozygosity mapping and whole-exome and candidate gene sequencing, we identified ten families carrying six homozygous and two compound-heterozyg...

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מידע ביבליוגרפי
הוצא לאור ב:Nat Genet
Main Authors: Kohl, Susanne, Zobor, Ditta, Chiang, Wei-Chieh, Weisschuh, Nicole, Staller, Jennifer, Menendez, Irene Gonzalez, Chang, Stanley, Beck, Susanne C, Garrido, Marina Garcia, Sothilingam, Vithiyanjali, Seeliger, Mathias W, Stanzial, Franco, Benedicenti, Francesco, Inzana, Francesca, Héon, Elise, Vincent, Ajoy, Beis, Jill, Strom, Tim M, Rudolph, Günther, Roosing, Susanne, den Hollander, Anneke I, Cremers, Frans P M, Lopez, Irma, Ren, Huanan, Moore, Anthony T, Webster, Andrew R, Michaelides, Michel, Koenekoop, Robert K, Zrenner, Eberhart, Kaufman, Randal J, Tsang, Stephen H, Wissinger, Bernd, Lin, Jonathan H
פורמט: Artigo
שפה:Inglês
יצא לאור: 2015
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC4610820/
https://ncbi.nlm.nih.gov/pubmed/26029869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3319
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