Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families

Genetic hearing loss is a common sensory disorder, and its cause is highly heterogeneous. In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese...

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Detalles Bibliográficos
Autores principales: Xu, Pengcheng, Xu, Jun, Peng, Hu, Yang, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7416276/
https://www.ncbi.nlm.nih.gov/pubmed/32802042
http://dx.doi.org/10.1155/2020/8872185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7416276/
https://www.ncbi.nlm.nih.gov/pubmed/32802042
http://dx.doi.org/10.1155/2020/8872185

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