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
Mutation analysis at the cystic fibrosis locus in the British population
β Scribed by Ann Harris; Frances Beards; Christopher Mathew
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 190 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0340-6717
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π SIMILAR VOLUMES
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,
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