Article
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.
Journal of medical genetics - 1 Jan 2011
Stanke Frauke, Becker Tim, Kumar Vinod, Hedtfeld Silke, Becker Christian, Cuppens Harry, Tamm Stephanie, Yarden Jennifer, Laabs Ulrike, Siebert Benny, Fernandez Luis, Macek Milan, Radojkovic Dragica, Ballmann Manfred, Greipel Joachim, Cassiman Jean-Jacques, Wienker Thomas F, Tümmler Burkhard
Abstract excerpt
BACKGROUND: The cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been employed so far to support the role of CF modifier genes. METHODS: Patients were selected from 101 families with a total of 171 F508del-CFTR homozygous CF patients to identify CF modifying genes. A candidate gene based association study...
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