𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular bases for cystic fibrosis in the Sardinian population

✍ Scribed by G. B. Leoni; C. Rosatelli; R. ardu; G. Scarpa; M. Silvetti; A. Cao

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

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Molecular analysis of cystic fibrosis in
Molecular analysis of cystic fibrosis in the Hungarian population
✍ Margit Nemeti; Elaine Louie; John P. Johnson; Zoltan Papp πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 177 KB

Hungarian cystic fibrosis (CF) families (n = 33) including 114 family members have been analysed for the presence of the delta F508 mutation within the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and have been haplotyped with probes for restriction fragment length polymorphisms

The major cystic fibrosis mutation in a
The major cystic fibrosis mutation in a British population
✍ 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
Prevalence of cystic fibrosis mutations in the East German population
✍ 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,