Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples

Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of carriers compared with traditional tests. The aim of this study was to assess the potential value of ECS for clinical application in Southern China, a region with high prevalence of thalassemia and with diverse...

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Detalles Bibliográficos
Autores principales: Zhao, Sumin, Xiang, Jiale, Fan, Chunna, Asan, Shang, Xuan, 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, Guo, Fengyu, Wang, Yaoshen, Zhong, Wenwei, Zhu, Yaping, Wang, Yaling, Chen, Chao, Li, Yun, Huang, Hui, Mao, Mao, Yin, Ye, Wang, Jian, Yang, Huanming, Xu, Xiangmin, Sun, Jun, Peng, Zhiyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336873/
https://www.ncbi.nlm.nih.gov/pubmed/30275481
http://dx.doi.org/10.1038/s41431-018-0253-9

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