CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

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• 作者：Gordon K. C. Leung ; Dingge Ying ; Christopher C. Y. Mak ; Xin-Ying Chen ; Weiyi Xu ; Kit-San Yeung ; Wai-Lap Wong ; Yoyo W. Y. Chu ; Gary T. K. Mok ; Christy S. K. Chau ; Jenna McLuskey ; Winnie P. T. Ong ; Huey-Yin Leong ; Kelvin Y. K. Chan ; Wanling Yang ; Jeng-Haur Chen ; Albert M. Li ; Pak C. Sham ; Yu-Lung Lau ; Brian H. Y. Chung and So-Lun Lee
• 刊名：Molecular Genetics & Genomic Medicine
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：5
• 期：1
• 页码：40-49
• 全文大小：1171K
• ISSN：2324-9269

文摘

Cystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation.