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

  • Medical Genetics
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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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Abbreviations

CF:

cystic fibrosis

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Authors and Affiliations

  1. Paediatric Genetics Unit, Royal Manchester Children's Hospital, M27 1HA, Manchester, UK

    M. Super & M. J. Schwarz

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  1. M. Super
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  2. M. J. Schwarz
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Super, M., Schwarz, M.J. Mutations of the cystic fibrosis gene locus within the population of the Northwest of England. Eur J Pediatr 151, 108–111 (1992). https://doi.org/10.1007/BF01958953

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  • DOI: https://doi.org/10.1007/BF01958953

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