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

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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Bibliographic Details
Main Authors: Penghui Chen, Longhao Wang, Yongchuan Chai, Hao Wu, Tao Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-12-01
Series:Frontiers in Genetics
Subjects:
splice site mutation
RNA splicing
minigene
hereditary deafness
next-generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.773922/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.773922/full

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