Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was d...

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Detalles Bibliográficos
Autores principales: Shang, Xuan, Peng, Zhiyu, Ye, Yuhua, Asan, 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, Yin, Xiaolin, Wu, Liusong, He, Jing, Huang, Dongai, He, Sheng, Yan, Tizhen, Fan, Xin, Zhou, Yuehong, Wei, Xiaofeng, Zhao, Sumin, Cai, Decheng, Guo, Fengyu, Zhang, Qianqian, Li, Yun, Zhang, Xuelian, Lu, Haorong, Huang, Huajie, Guo, Junfu, Zhu, Fei, Yuan, Yuan, Zhang, Li, Liu, Na, Li, Zhiming, Jiang, Hui, Zhang, Qiang, Zhang, Yijia, Juhari, Wan Khairunnisa Wan, Hanafi, Sarifah, Zhou, Wanjun, Xiong, Fu, Yang, Huanming, Wang, Jian, Zilfalil, Bin Alwi, Qi, Ming, Yang, Yaping, Yin, Ye, Mao, Mao, Xu, Xiangmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5605365/
https://www.ncbi.nlm.nih.gov/pubmed/28865746
http://dx.doi.org/10.1016/j.ebiom.2017.08.015

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