A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient

BACKGROUND: Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia (CHM), a rare X‐linked eye...

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Detalles Bibliográficos
Autores principales: Fioretti, Tiziana, Ungari, Silvana, Savarese, Maria, Cattaneo, Fabio, Pirozzi, Enza, Esposito, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667377/
https://www.ncbi.nlm.nih.gov/pubmed/32949230
http://dx.doi.org/10.1002/mgg3.1490

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667377/
https://www.ncbi.nlm.nih.gov/pubmed/32949230
http://dx.doi.org/10.1002/mgg3.1490

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