NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study

In this study, we performed a spinal muscular atrophy carrier screening investigation with NGS-based method. First, the validation for NGS-based method was implemented in 2255 samples using real-time PCR. The concordance between the NGS-based method and real-time PCR for the detection of SMA carrier...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Eur J Hum Genet
Main Authors: Zhao, Sumin, Wang, Wanyang, Wang, Yaoshen, Han, Rui, Fan, Chunna, Ni, Peixiang, Guo, Fengyu, Zeng, Fanwei, Yang, Qiaona, Yang, Yun, Sun, Yan, Zhang, Xinhua, Chen, Yan, Zhu, Baosheng, Cai, Wangwei, Chen, Shaoke, Cai, Ren, Guo, Xiaoling, Zhang, Chonglin, Zhou, Yuqiu, Huang, Shuodan, Liu, Yanhui, Chen, Biyan, Yan, Shanhuo, Chen, Yajun, Ding, Hongmei, Shang, Xuan, Xu, Xiangmin, Sun, Jun, Peng, Zhiyu
פורמט: Artigo
שפה:Inglês
יצא לאור: Springer International Publishing 2020
נושאים:
Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC7852551/
https://ncbi.nlm.nih.gov/pubmed/32884118
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00714-8
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