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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Detalles Bibliográficos
Autores principales: Chen, Penghui, Wang, Longhao, Chai, Yongchuan, Wu, Hao, Yang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693380/
https://www.ncbi.nlm.nih.gov/pubmed/34956325
http://dx.doi.org/10.3389/fgene.2021.773922

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693380/
https://www.ncbi.nlm.nih.gov/pubmed/34956325
http://dx.doi.org/10.3389/fgene.2021.773922

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