Title: Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice
Authors: Castellani, C ×
Cuppens, Harry
Macek, M
Cassinian, J. J
Kerern, E
Durie, P
Tullis, E
Assael, B. M
Bombieri, C
Brown, A
Casals, T
Claustres, M
Cutting, G. R
Dequeker, Elisabeth
Dodge, J
Doull, I
Farrell, P
Ferec, C
Girodon, E
Johannesson, M
Kerem, B
Knowles, M
Munck, A
Pignatti, P. F
Radojkovic, D
Rizzotti, P
Schwarz, M
Stuhnnann, M
Tzetis, M
Zielenski, J
Elborn, J. S #
Issue Date: May-2008
Publisher: Elsevier science bv
Series Title: Journal of cystic fibrosis vol:7 issue:3 pages:179-196
Abstract: 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 settings.
ISSN: 1569-1993
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Human Mutations and Polymorphisms Section (-)
Department of Human Genetics - miscellaneous
Biomedical Quality Assurance Research Unit
× corresponding author
# (joint) last author

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