G542X mutation in Mexican cystic fibrosis patients
✍ Scribed by Maria Teresa Villarreal; Margarita Chávez; José Luis Lezana; Francisco Cuevas; Alessandra Carnevale; Emilio Códova; Rosa Ma; Del Angel; Lorena Orozco
- Book ID
- 115091928
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 325 KB
- Volume
- 49
- Category
- Article
- ISSN
- 0009-9163
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We carried out molecular analysis of 80 chromosomes from 40 unrelated Mexican patients with a diagnosis of cystic fibrosis. The study was performed in two PCR steps: a preliminary one to identify mutation ⌬F508, the most frequent cause of cystic fibrosis worldwide, and the second a reverse dot-blot
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