The clinical and laboratory findings of a cystic fibrosis (CF) patient homozygous for the G542X mutation are described. This is the first case, among the 7 G542X homozygous CF subjects described so far who shows severe liver involvement, associated pancreatic insufficiency, and moderate pulmonary ex
โฆ LIBER โฆ
Cystic fibrosis with homozygous R553X mutation in a Taiwanese child
โ Scribed by Hui-Ju Chen; Shuan-Pei Lin; Hung-Chang Lee; Chih-Ping Chen; Nan-Chang Chiu; Han-Yang Hung; Schu-Rern Chern; Chih-Kuang Chuang
- Publisher
- Nature Publishing Group
- Year
- 2005
- Tongue
- English
- Weight
- 261 KB
- Volume
- 50
- Category
- Article
- ISSN
- 1435-232X
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