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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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| Publicado no: | Invest Ophthalmol Vis Sci |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Association for Research in Vision and Ophthalmology
2020
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| Assuntos: | |
| Acesso em linha: | 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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