Article
Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.
Human mutation - 1 Aug 2011
Steiner Bernhard, Rosendahl Jonas, Witt Heiko, Teich Niels, Keim Volker, Schulz Hans-Ulrich, Pfützer Roland, Löhr Matthias, Lühr Matthias, Gress Thomas M, Nickel Renate, Landt Olfert, Koudova Monika, Macek Milan, Farre Antoni, Casals Teresa, Desax Marie-Claire, Gallati Sabina, Gomez-Lira Macarena, Audrezet Marie Pierre, Férec Claude, des Georges Marie, Claustres Mireille, Truninger Kaspar
Abstract excerpt
CFTR mutations enhance susceptibility for idiopathic chronic pancreatitis (ICP) and congenital bilateral absence of the vas deferens (CBAVD); however, it is unknown why CFTR heterozygotes are at increased disease risk. We recently showed that common CFTR variants are associated with aberrantly spliced transcripts. Here, we genotyped for common CFTR variants and tested for associations in two ICP (ICP-A: 126...
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