Article
Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.
Orphanet journal of rare diseases - 15 Jun 2020
Liu Keqiang, Xu Wenshuai, Xiao Meng, Zhao Xinyue, Bian Chun, Zhang Qianli, Song Jiaxing, Chen Keqi, Tian Xinlun, Liu Yaping, Xu Kai-Feng, Zhang Xue
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is a rare autosomal recessive disorder caused by biallelic mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The clinical features and mutation spectrum of CF have been well characterized in Caucasians, while limited studies were conducted in Chinese patients. SUBJECTS AND METHODS: A total of 20 individuals from 19 families were diagnosed with CF in...
Topics
- Adult
- China
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Exocrine Pancreatic Insufficiency
- Exons
- Humans
- Male
- Mutation