✦ LIBER ✦

CFTR gene analysis in Latin American CF patients: Heterogeneous origin and distribution of mutations across the continent

✍ Scribed by Martín M. Pérez; María Cecilia Luna; Omar H. Pivetta; Genoveva Keyeux

Book ID: 119288513
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 217 KB
Volume: 6
Category: Article
ISSN: 1569-1993
DOI: 10.1016/j.jcf.2006.07.004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Four new mutations of the CFTR gene (541

Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes

✍ Laura Cremonesi; Maurizio Ferrari; Elena Belloni; Carmelina Magnani; Manuela Sei 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 521 KB

## Communicated by LapChee Tsui The deltaF508 mutation accounts for about 53% of the molecular defects causing cystic fibrosis (CF) in Italy. The numerous additional mutations detected so far are all relatively rare, and about 30% of CF chromosomes carries unknown mutations in our patients. In ord

19 Qualitative and quantitative analysis

19 Qualitative and quantitative analysis of mRNA associated with splicing mutations in the CFTR gene with the aim of development of a CF splicing chip -clinical phenotypes of patients

📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 88 KB