Article
Preliminary evidence of an association between the functional c-kit rs6554199 polymorphism and achalasia in a Turkish population.
Neurogastroenterology and motility - 1 Jan 2012
Alahdab Y O, Eren F, Giral A, Gunduz F, Kedrah A E, Atug O, Yilmaz Y, Kalayci O, Kalayci C
Abstract excerpt
BACKGROUND: C-kit-positive interstitial cells of Cajal (ICC) of the lower esophageal sphincter are reduced in achalasia. Two functional gene polymorphisms (rs2237025 and rs6554199) within the c-kit gene may affect its transcriptional activity. In this pilot study, we hypothesized that these polymorphisms would be associated with achalasia. METHODS: Genomic DNA was extracted and real-time PCR reactions were used...
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