Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

PURPOSE: Choroideremia is an inherited retinal degeneration caused by 280 different pathogenic variants in the CHM gene. Only one silent/synonymous variant (c.1359C>T; p.(Ser453=)) has been reported and was classified as inconclusive based on in silico analysis. This study elucidates the pathogen...

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Dades bibliogràfiques
Publicat a:Invest Ophthalmol Vis Sci
Autors principals: da Palma, Mariana Matioli, Motta, Fabiana Louise, Gomes, Caio Perez, Salles, Mariana Vallim, Pesquero, João Bosco, Sallum, Juliana Maria Ferraz
Format: Artigo
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2020
Matèries:
Genetics
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7329626/
https://ncbi.nlm.nih.gov/pubmed/32097478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.61.2.38
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