Article
Mutations of the cystic fibrosis gene locus within the population of the Northwest of England.
European journal of pediatrics - 1 Feb 1992
Super M, Schwarz M J
Abstract excerpt
A large group of patients with cystic fibrosis (CF) from the Northwest of England were analysed for mutations within the CF gene. Eleven separate mutations were identified comprising 91.5% of the responsible genes. Molecular confirmation of a CF diagnosis becomes possible in 84% of cases. Only 1.19% of cases negative for the nine mutations have CF. The results of molecular analysis in this population have useful...
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