Multiexon deletion alleles of ATF6 linked to achromatopsia

Achromatopsia (ACHM) is an autosomal recessive disease that results in severe visual loss. Symptoms of ACHM include impaired visual acuity, nystagmus, and photoaversion starting from infancy; furthermore, ACHM is associated with bilateral foveal hypoplasia and absent or severely reduced cone photore...

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Bibliografiske detaljer
Udgivet i:JCI Insight
Main Authors: Lee, Eun-Jin, Chiang, Wei-Chieh Jerry, Kroeger, Heike, Bi, Chloe Xiaoke, Chao, Daniel L., Skowronska-Krawczyk, Dorota, Mastey, Rebecca R., Tsang, Stephen H., Chea, Leon, Kim, Kyle, Lambert, Scott R., Grandjean, Julia M.D., Baumann, Britta, Audo, Isabelle, Kohl, Susanne, Moore, Anthony T., Wiseman, R. Luke, Carroll, Joseph, Lin, Jonathan H.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2020
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7205249/
https://ncbi.nlm.nih.gov/pubmed/32271167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.136041
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