Article
A novel approach to CFTR mutation testing by pyrosequencing-based assay panels adapted to ethnicities.
Clinical chemistry - 1 Jun 2009
Bickmann Julia K, Kamin Wolfgang, Wiebel Matthias, Häuser Friederike, Wenzel Jürgen J, Neukirch Carolin, Stuhrmann Manfred, Lackner Karl J, Rossmann Heidi
Abstract excerpt
BACKGROUND: Cystic fibrosis (CF) is a common autosomal recessive genetic disorder caused by a variety of sequence alterations in the CFTR gene [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)]. Because the relative prevalence of mutations strongly depends on the ethnic background, first-level testing of CF as defined by recent consensus recommendations ought to be...
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