Article
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Orphanet journal of rare diseases - 21 Mar 2022
Ni Qi, Chen Xiang, Zhang Ping, Yang Lin, Lu Yulan, Xiao Feifan, Wu Bingbing, Wang Huijun, Zhou Wenhao, Dong Xinran
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is a common, life-threatening genetic disease in Caucasians but rarely reported in Chinese population. The prevalence and population-specific genetic spectrum of CF in China needs to be systematically estimated and compared with Caucasians. MATERIALS AND METHODS: We reviewed 30,951 exome-sequencing samples, including 20,909 pediatric patient samples and 10,042 parent samples, from...
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