𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular Analysis in Brazilian Cystic Fibrosis Patients Reveals Five Novel Mutations

✍ Scribed by Bernardino, A. L. F.; Ferri, A.; Passos-Bueno, M. R.; Kim, C. E. A.; Nakaie, C. M. A.; Gomes, C. E. T.; Damaceno, N.; Zatz, M.


Book ID
120401340
Publisher
Mary Ann Liebert
Year
2000
Tongue
English
Weight
263 KB
Volume
4
Category
Article
ISSN
1090-6576

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Analysis of 14 cystic fibrosis mutations
✍ V. Nunes; P. Gasparini; G. Noyelli; A. Gaona; A. Bonizzato; F. Sangiuolo; A. Bal πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 202 KB

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

Analysis of 16 cystic fibrosis mutations
✍ Villalobos-Torres, C.; Rojas-MartΓ­nez, A.; Villareal-Castellanos, E.; CantΓΊ, J. πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 142 KB πŸ‘ 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