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 ChaoORCID,Zhang Jianhua

Funder

National Natural Science Foundation of China

Natural Science Foundation of Jiangsu Province

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference39 articles.

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

2. Castellani C, Cuppens H, Macek M, Jr., et al. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J Cyst Fibros. 2008;7(3):179-196.

3. CFTR2 database. https://cftr2.org. Accessed January 1, 2023.

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

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

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