Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

@article{Castellani2008ConsensusOT,
  title={Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.},
  author={Carlo Castellani and Harry Cuppens and Milan Macek and Jean Jacques Cassiman and Eitan Kerem and Peter Durie and Elizabeth D Tullis and Baroukh Maurice Assael and Cristina Bombieri and Alun Brown and Teresa Casals and Mireille Claustres and Garry R. Cutting and Elisabeth M. C. Dequeker and Jon Dodge and I J M Doull and Philip S. E. Farrell and Claude F{\'e}rec and Emmanuelle Girodon and Marie Johannesson and Batsheva Kerem and Michael Knowles and Anne A Boerema-De Munck and Pier Franco Pignatti and Dragica Radojkovic and Paolo Rizzotti and Martin J Schwarz and Manfred Stuhrmann and Maria Tzetis and Julian Zielenski and J Stuart Elborn},
  journal={Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society},
  year={2008},
  volume={7 3},
  pages={179-96}
}
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical… CONTINUE READING

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