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A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis |
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| Authors: | Yingjun Xie Xueqiong Huang Yujian Liang Lingling Xu Yuxin Pei Yucai Cheng Lidan Zhang Wen Tang |
| Affiliation: | 1. Department of Prenatal Diagnosis, The First Affiliated Hospital of Sun Yat‐sen University, Guangzhou, China;2. Department of Pediatrics, Pediatric Intensive Care Unit, The First Affiliated Hospital of Sun Yat‐sen University, Guangzhou, China |
| Abstract: | |
| Keywords: | CFTR – Chinese family – cystic fibrosis – compound heterozygous mutation – gene mutation – heterozygosity – next‐generation sequencing |