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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:JCI Insight
Glavni autori: 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
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2020
Teme:
Research Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items