Associated Papers
Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.
Wu S et al.
Ophthalmic Genetics, 2024
ATF6 is essential for human cone photoreceptor development.
Kroeger H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Multiexon deletion alleles of ATF6 linked to achromatopsia.
Lee EJ et al.
Jci Insight, 2020
ERp18 regulates activation of ATF6α during unfolded protein response.
Oka OB et al.
The Embo Journal, 2019
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
Wawrocka A et al.
Molecular Vision, 2018
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.
Skorczyk-Werner A et al.
European Journal of Human Genetics : Ejhg, 2017
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