Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness

Splice site mutations contribute to a significant portion of the genetic causes for mendelian disorders including deafness. By next-generation sequencing of 4 multiplex, autosomal dominant families and 2 simplex, autosomal recessive families with hereditary deafness, we identified a variety of candi...

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Detalhes bibliográficos

Principais autores:	Penghui Chen, Longhao Wang, Yongchuan Chai, Hao Wu, Tao Yang
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2021-12-01
coleção:	Frontiers in Genetics
Assuntos:	splice site mutation RNA splicing minigene hereditary deafness next-generation sequencing
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2021.773922/full
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