医学
囊性纤维化
支气管扩张
囊性纤维化跨膜传导调节器
内科学
新生儿筛查
儿科
基因型
胃肠病学
鼻窦炎
肺炎
外科
肺
基因
遗传学
生物
作者
Chunna Xu,Yu Tang,Lili Dong,Yuelin Shen
摘要
Children with CF in Henan had varied clinical phenotypes by age, with respiratory disease being predominant. The most frequent CFTR gene variant was c.2909G>A(p. Gly970Asp). This study is the first and most comprehensive one on the clinical phenotype and genotype of children with CF in Henan, China. We also reported the first CF case of Mycobacterium abscessus infection in China.
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