Rescue of mis-splicing of a common SLC26A4 mutant associated with sensorineural hearing loss by antisense oligonucleotides

A wide spectrum of SLC26A4 mutations causes Pendred syndrome and enlarged vestibular aqueduct, both associated with sensorineural hearing loss (SNHL). A splice-site mutation, c.919-2A>G (A-2G), which is common in Asian populations, impairs the 3′ splice site of intron 7, resulting in exon 8 skipp...

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Detalles Bibliográficos
Autores principales: Feng, Pengchao, Xu, Zhijiao, Chen, Jialin, Liu, Meizhen, Zhao, Yu, Wang, Daqi, Han, Lei, Wang, Li, Wan, Bo, Xu, Xingshun, Li, Dali, Shu, Yilai, Hua, Yimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Gene & Cell Therapy 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8987850/
https://www.ncbi.nlm.nih.gov/pubmed/35433113
http://dx.doi.org/10.1016/j.omtn.2022.03.015

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