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. 1992 Feb;151(2):108-11.
doi: 10.1007/BF01958953.

Mutations of the cystic fibrosis gene locus within the population of the Northwest of England

M Super  1 , M J Schwarz
Affiliations

Mutations of the cystic fibrosis gene locus within the population of the Northwest of England

M Super et al. Eur J Pediatr. 1992 Feb.

Abstract

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 implications in respect of diagnosis validation and population carrier screening.

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