Associated Papers
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.
Wu S et al.
Ophthalmic Genetics, 2024
Corrigendum to "Splicing mutations in inherited retinal diseases" [Prog. Retin. Eye Res. 80 (2021) 100874].
Weisschuh N et al.
Progress in Retinal and Eye Research, 2022
Identification of Novel Mutations in Chinese Infants With Citrullinemia.
Cheng Z et al.
Frontiers in Genetics, 2022
Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee EJ et al.
Jci Insight, 2020
Pathomechanisms of ATF6-Associated Cone Photoreceptor Diseases.
Chiang WJ et al.
Advances in Experimental Medicine and Biology, 2019
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S et al.
Nature Genetics, 2015
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