Cystic fibrosis: A new mutation in the Lebanese population
β Scribed by Chantal Farra; Rita Medawar; Salman Mroueh; Myrna Souaid; Faiza Cabet; Johnny Awwad
- Book ID
- 119288623
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 301 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1569-1993
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π SIMILAR VOLUMES
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
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,
## Communicated by Lap-Chee Tsui Upstate New York patients (100) with cystic fibrosis (i.e., 200 CF chromosomes), 72 from the CF center in Syracuse and 28 from a Buffalo CF center, were analyzed for their CF-causing mutations using restriction enzyme digest, single-strand conformation analysis (SSC