Current Paediatrics
Volume 13, Issue 4 , Pages 253-258, August 2003

Basic science of cystic fibrosis

  • Jeremy Hull

      Affiliations

    • Corresponding Author InformationCorrespondence to: JH. Tel.: +44(0)1865; 221075; Fax: +44(0)1865 220479

University Lecturer and Honorary Consultant, Department of Paediatrics, Level 4, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK

Abstract 

Cystic fibrosis is a relatively common genetic disease with a high morbidity and mortality. Understanding of how the disease arises has been increasing steadily since the gene was identified in 1989. This brief review will consider some aspects of the basic science of the disease, focusing on genetics, genotype/phenotype correlations, pathogenesis of lung disease and methods of diagnosis.

Keywords:  cystic fibrosis, genetics, genotype, phenotype, pathogenesis, diagnosis

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PII: S0957-5839(03)00029-0

doi:10.1016/S0957-5839(03)00029-0

Current Paediatrics
Volume 13, Issue 4 , Pages 253-258, August 2003

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