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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Bibliografiset tiedot
Julkaisussa:JCI Insight
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 2020
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Research Article
Linkit: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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