Abstract
s / Pancreatology 14 (2014) S1eS129 S79 Results: Sequencing analysis of the discovery cohort revealed four common mutations: intronic mutations c.23+71_23+103del, c.183-4C>A and c.1134+32C>A; and exonic missense mutation p.V206M. . These four mutations were found in linkage disequilibrium indicating a conserved haplotype. We found this haplotype in 18 heterozygous and 2 homozygous cases, and in 24 heterozygous and 2 homozygous controls (allele frequency 11.4% and 14.1% respectively). A synonymous mutation p.P397P was also detected in a single case. Conclusion:We found a novel, commonhaplotype in the SLC26A6 gene, which did not show association with CP. Supported by T AMOP and OTKA.
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