𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation analysis at the cystic fibrosis locus in the British population

✍ Scribed by Ann Harris; Frances Beards; Christopher Mathew


Publisher
Springer
Year
1990
Tongue
English
Weight
190 KB
Volume
85
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


The major cystic fibrosis mutation in a
✍ C. J. McMahon; S. A. Genet; H. R. Middleton-Price; P. Rutland; M. E. Pembrey; S. πŸ“‚ Article πŸ“… 1990 πŸ› Springer 🌐 English βš– 152 KB

We have studied 72 families with at least one child with cystic fibrosis (CF); they were referred because they had requested pre-natal diagnosis in a future pregnancy. The AF508 mutation was found in 108/140 CF chromosomes (77%). In 41/72 families (57%), both parents carried a deleted chromosome and

Prevalence of cystic fibrosis mutations
✍ Charles Coutelle; Roland BrΓΌckner; Klaus Grade; Frauke Behrens; JΓΌrgen Gedschold πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 381 KB

A representative multicenter cystic fibrosis (CF) mutation analysis on about half of all known cystic fibrosis patients of the 5 East German LΓ€nder 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 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