Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients

Author:

Liu Yaping1,Wang Lianqing1,Tian Xinlun2,Xu Kai-Feng2,Xu Wenbing2,Li Xue2,Yue Cai3,Zhang Peng2,Xiao Yi2,Zhang Xue1

Affiliation:

1. Department of Medical Genetics; School of Basic Medicine Peking Union Medical College; Beijing China

2. Department of Respiratory Medicine; Peking Union Medical College Hospital; Beijing China

3. Department of Internal Medicine; Peking Union Medical College Hospital; Beijing China

Funder

National Natural Science Foundation of China

Program for Changjiang Scholars and Innovative Research Team in University

Funding for Peking Union Medical College Hospital Middle-aged and Young Researcher

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine

Reference29 articles.

1. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report;Farrell;J. Pediatr.,2008

2. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections;Comeau;Pediatrics,2004

3. The first case of CF in Mainland China identified by DNA analysis;Chen;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,1995

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

5. [Clinical manifestations and gene analysis of 2 Chinese children with cystic fibrosis];Liu;Zhonghua Er Ke Za Zhi,2012

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