Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis

BACKGROUND: Preimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay. METHODS: One couple at risk of transmitting Usher Syndrome to their...

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Vydáno v:BMC Med Genomics
Hlavní autoři: Luo, Haining, Chen, Chao, Yang, Yun, Zhang, Yinfeng, Yuan, Yuan, Wang, Wanyang, Wu, Renhua, Peng, Zhiyu, Han, Ying, Jiang, Lu, Yao, Ruqiang, An, Xiaoying, Zhang, Weiwei, Le, Yanqun, Xiang, Jiale, Yi, Na, Huang, Hui, Li, Wei, Zhang, Yunshan, Sun, Jun
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6836415/
https://ncbi.nlm.nih.gov/pubmed/31699113
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0600-x
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