Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing loss

BACKGROUND: Genetic variants in TMPRSS3 have been causally linked to autosomal recessive nonsyndromic hearing loss (HL) at the DFNB8 and DFNB10 loci. These variants include both single nucleotide and copy number variations (CNVs). In this study, we aim to identify the genetic cause in three Chinese...

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Detalles Bibliográficos
Autores principales: Li, Xinlei, Tan, Bo, Wang, Xiaoqian, Xu, Xiaofei, Wang, Cuicui, Zhong, Mingjun, Zhao, Qiuling, Bao, Zhongwei, Peng, Weihua, Zhang, Lei, Cheng, Jing, Lu, Yu, Wu, Peina, Yuan, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565588/
https://www.ncbi.nlm.nih.gov/pubmed/31016883
http://dx.doi.org/10.1002/mgg3.685

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565588/
https://www.ncbi.nlm.nih.gov/pubmed/31016883
http://dx.doi.org/10.1002/mgg3.685

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