Article
Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2011
Mafficini Andrea, Ortombina Myriam, Sermet-Gaudelius Isabelle, Lebecque Patrick, Leal Teresinha, Iansa Patrizia, Reychler Gregory, Dahan Karin, Pepermans Xaviers, Lenoir Gerard, Leonard Anissa, Sorio Claudio, Assael Baroukh, Melotti Paola
Abstract excerpt
A 5'FR/G-260C (NCBI reference: 010393.16:g.15983174C>G) functional polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) promoter has been reported which influences ABCC1 expression including inflammatory related events. We aimed at investigating the impact of this polymorphism on the severity of CF disease. In this multicentric study, key clinical features of 203 CF patients homozygous for the...
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