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A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia
BACKGROUND: Choroideremia is an X-linked retinal disease characterized by progressive atrophy of the choroid and retinal pigment epithelium caused by mutations in the CHM gene. SVA (SINE-R/VNTR/Alu) elements are a type of non-autonomous retrotransposon that occasionally self-replicate, reinsert rand...
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| Publicado no: | Ophthalmic Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7375010/ https://ncbi.nlm.nih.gov/pubmed/32441177 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2020.1768557 |
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