𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Analysis of 14 cystic fibrosis mutations in five South European populations

✍ Scribed by V. Nunes; P. Gasparini; G. Noyelli; A. Gaona; A. Bonizzato; F. Sangiuolo; A. Balassopoulou; F. J. Giménez; M. Dognini; M. Ravnik-Glavac; M. Cikuli; V. Mokini; R. Komel; B. Dallapiccola; P. F. Pignatti; D. Loukopoulos; T. Casals; X. Estivill

Publisher
Springer
Year
1991
Tongue
English
Weight
202 KB
Volume
87
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from AF508, were G542X (6.04%), R1162X (3.61%) and N1303K (3.24%). Each of the other analysed mutations were present at a frequency of less than 1%

📜 SIMILAR VOLUMES

Prevalence of cystic fibrosis mutations
Prevalence of cystic fibrosis mutations in the East German population
✍ Charles Coutelle; Roland Brückner; Klaus Grade; Frauke Behrens; Jürgen Gedschold 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 381 KB

A representative multicenter cystic fibrosis (CF) mutation analysis on about half of all known cystic fibrosis patients of the 5 East German Länder is reported. Analyses for 17 mutations, among them Delta F508, R553X, G542X, S549R,N,I, G551D, S1255X, R347P,H, and Y122X, were performed. As expected,

Analysis of 16 cystic fibrosis mutations
Analysis of 16 cystic fibrosis mutations in Mexican patients
✍ Villalobos-Torres, C.; Rojas-Martínez, A.; Villareal-Castellanos, E.; Cantú, J. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 142 KB 👁 2 views

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