| Literature DB >> 2210765 |
B Simon-Bouy1, E Mornet, J L Serre, A Taillandier, J Boué, A Boué.
Abstract
French families (n = 129) with at least one cystic fibrosis (CF) affected child and 44 unrelated subjects from the general population were tested for the presence of the delta F508 mutation by the polymerase chain reaction. The delta F508/CF mutation ratio (CF: uncharacterised CF mutations) was tested in the CF families with and without meconium ileus. The association between delta F508 and CF mutations and restriction fragment length polymorphism haplotypes (XV2c and KM19) has been estimated; these data suggest that the CF chromosomes include a panel of independent and probably different mutations.Entities:
Mesh:
Year: 1990 PMID: 2210765 DOI: 10.1007/bf02428300
Source DB: PubMed Journal: Hum Genet ISSN: 0340-6717 Impact factor: 4.132