Literature DB >> 12833420

Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.

Lee-Jun C Wong, Ozgül M Alper, Bao-Tyan Wang, Mei-Hui Lee, Shin-Yu Lo.   

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Year:  2003        PMID： 12833420     DOI： 10.1002/ajmg.a.20039

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  8 in total

1.  Cystic fibrosis with homozygous R553X mutation in a Taiwanese child.

Authors:  Hui-Ju Chen; Shuan-Pei Lin; Hung-Chang Lee; Chih-Ping Chen; Nan-Chang Chiu; Han-Yang Hung; Schu-Rern Chern; Chih-Kuang Chuang
Journal:  J Hum Genet       Date:  2005-11-10       Impact factor: 3.172

2.  The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens.

Authors:  Wu-Hua Ni; Lei Jiang; Qian-Jin Fei; Jian-Yuan Jin; Xu Yang; Xue-Feng Huang
Journal:  Asian J Androl       Date:  2012-07-30       Impact factor: 3.285

3.  Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

Authors:  Kang Mo Ahn; Hwa Young Park; Ji Hyun Lee; Min Goo Lee; Jeong Ho Kim; Im Ju Kang; Sang Il Lee
Journal:  J Korean Med Sci       Date:  2005-02       Impact factor: 2.153

4.  SLC9A3 Protein Is Critical for Acrosomal Formation in Postmeiotic Male Germ Cells.

Authors:  Ya-Yun Wang; Han-Sun Chiang; Chiao-Yin Cheng; Yi-No Wu; Yung-Chih Lin; Hsuan-Che Liu; Wei-Kung Tsai; Yen-Lin Chen; Ying-Hung Lin
Journal:  Int J Mol Sci       Date:  2017-12-29       Impact factor: 5.923

5.  Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.

Authors:  Ya-Yun Wang; Ying-Hung Lin; Yi-No Wu; Yen-Lin Chen; Yung-Chih Lin; Chiao-Yin Cheng; Han-Sun Chiang
Journal:  PLoS Genet       Date:  2017-04-06       Impact factor: 5.917

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

Authors:  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; So-Lun Lee
Journal:  Mol Genet Genomic Med       Date:  2016-11-13       Impact factor: 2.183

7.  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

8.  SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens.

Authors:  Yi-No Wu; Kuo-Chiang Chen; Chien-Chih Wu; Ying-Hung Lin; Han-Sun Chiang
Journal:  Biomed Res Int       Date:  2019-03-10       Impact factor: 3.411
  8 in total

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