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

Nature Genetics 47, 757 (2015).
doi:10.1038/ng.3319

Authors: Susanne Kohl, Ditta Zobor, Wei-Chieh Chiang, Nicole Weisschuh, Jennifer Staller, Irene Gonzalez Menendez, Stanley Chang, Susanne C Beck, Marina Garcia Garrido, Vithiyanjali Sothilingam, Mathias W Seeliger, Franco Stanzial, Francesco Benedicenti, Francesca Inzana, Elise Héon, Ajoy Vincent, Jill Beis, Tim M Strom, Günther Rudolph, Susanne Roosing, Anneke I den Hollander, Frans P M Cremers, Irma Lopez, Huanan Ren, Anthony T Moore, Andrew R Webster, Michel Michaelides, Robert K Koenekoop, Eberhart Zrenner, Randal J Kaufman, Stephen H Tsang, Bernd Wissinger & Jonathan H Lin

Source: Nature Genetics - June 1, 2015 Category: Genetics & Stem Cells Authors: Susanne KohlDitta ZoborWei-Chieh ChiangNicole WeisschuhJennifer StallerIrene Gonzalez MenendezStanley ChangSusanne C BeckMarina Garcia GarridoVithiyanjali SothilingamMathias W SeeligerFranco StanzialFrancesco BenedicentiFrancesca InzanaElise HéonAjoy Vin Tags: Article Source Type: research