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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565588/
https://ncbi.nlm.nih.gov/pubmed/31016883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.685
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