Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis

Author:

Sun Jingyi,Hua Li,He Yafang,Liu Haipei,Liu Quanhua,Chen Mengxue,Li Jing,Ye Jianmin,Fang Dingzhu,Ji Ruoxu,Chen Yi,Yang Chao,Zhang Jianhua

Funder

National Natural Science Foundation of China

Natural Science Foundation of Jiangsu Province

Publisher

Elsevier BV

Reference39 articles.

1. Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients;Alper;J. Formos Med. Assoc.,2003

2. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice;Castellani;J. Cyst. Fibros.,2008

3. Acute appendicitis mimicking intestinal obstruction in a patient with cystic fibrosis;Chen;J. Formos Med. Assoc.,2012

4. Cystic fibrosis with homozygous R553X mutation in a Taiwanese child;Chen;J. Hum. Genet.,2005

5. A review of cystic fibrosis: Basic and clinical aspects;Chen;Animal Model. Exp. Med.,2021

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