Article
Potential association of VAMP5 polymorphisms with total colonic aganglionosis in Hirschsprung disease.
Neurogastroenterology and motility - 1 Jul 2016
Shin J-G, Kim D-Y, Seo J-M, Oh J-T, Park K-W, Kim H-Y, Park B L, Kim J-H, Shin H D
Abstract excerpt
BACKGROUND: Hirschsprung disease (HSCR) is a congenital bowel disease caused by the absence of nerve cells in portions of the intestine. Our recent genome-wide association study has identified a variant (rs1254900) of vesicle-associated membrane protein 5 (VAMP5) as a potential risk locus for total colonic aganglionosis (TCA) in HSCR. In addition, VAMP5 is a member of the VAMP/synaptobrevin protein complex, which...
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