Literature DB >> 7537147

A splicing mutation (1898 + 1G-->T) in the CFTR gene causing cystic fibrosis.

J Crawford1, A Labrinidis, W F Carey, P V Nelson, J S Harvey, C P Morris.   

Abstract

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Year:  1995        PMID： 7537147     DOI： 10.1002/humu.1380050115

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

1.  p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.

Authors:  Xinlun Tian; Yaping Liu; Jun Yang; Han Wang; Tao Liu; Wenbing Xu; Xue Li; Yuanjue Zhu; Kai-Feng Xu; Xue Zhang
Journal:  Hum Genome Var       Date:  2016-01-07

2.  Clinical and genetic characteristics of cystic fibrosis in CHINESE patients: a systemic review of reported cases.

Authors:  Xiaobei Guo; Keqiang Liu; Yaping Liu; Yusen Situ; Xinlun Tian; Kai-Feng Xu; Xue Zhang
Journal:  Orphanet J Rare Dis       Date:  2018-12-17       Impact factor: 4.123

3.  Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Authors:  Haiyan Li; Li Lin; Xiaoguang Hu; Changchong Li; Hailin Zhang
Journal:  Front Pediatr       Date:  2019-02-20       Impact factor: 3.418

4.  c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.

Authors:  Yu-Qing Wang; Chuang-Li Hao; Wu-Jun Jiang; Yan-Hong Lu; Hui-Quan Sun; Chun-Yan Gao; Min Wu
Journal:  World J Clin Cases       Date:  2019-08-06       Impact factor: 1.337
  4 in total

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