Literature DB >> 1284542

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome.

M Macek1, A Hamosh, S Kiesewetter, I McIntosh, B J Rosenstein, G R Cutting.   

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Year:  1992        PMID： 1284542     DOI： 10.1002/humu.1380010608

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


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  5 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.  Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

Authors:  Won-Jung Koh; Chang-Seok Ki; Jong-Won Kim; Jeong-Ho Kim; Seong Yong Lim
Journal:  J Korean Med Sci       Date:  2006-06       Impact factor: 2.153

3.  Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.

Authors:  N Morral; R Llevadot; T Casals; P Gasparini; M Macek; T Dörk; X Estivill
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

4.  Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Authors:  Qi Ni; Xiang Chen; Ping Zhang; Lin Yang; Yulan Lu; Feifan Xiao; Bingbing Wu; Huijun Wang; Wenhao Zhou; Xinran Dong
Journal:  Orphanet J Rare Dis       Date:  2022-03-21       Impact factor: 4.123

5.  Identification of a novel mutation of CFTR gene in a Korean patient with cystic fibrosis.

Authors:  Jung Min Ko; Gu-Hwan Kim; Kyung Mo Kim; Soo-Jong Hong; Han-Wook Yoo
Journal:  J Korean Med Sci       Date:  2008-10       Impact factor: 2.153
  5 in total

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