Lack of association between the functional c-kit rs6554199 polymorphism and achalasia in a Spanish population.

doi:10.1016/j.humimm.2012.08.009

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Lack of association between the functional c-kit rs6554199 polymorphism and achalasia in a Spanish population.

Human immunology - 1 Nov 2012

Santiago Jose Luis, de la Concha Emilio G, de la Serna Julio Pérez, Sevilla Concepción, Urcelay Elena, de León Antonio Ruiz

Abstract excerpt

A functional polymorphism (rs6554199) located in the c-kit gene was associated with achalasia in a Turkish cohort. Our aim was to replicate this result in a large cohort of Spanish patients and controls. A case-control study was performed with 282 Spanish white unrelated patients and 687 healthy...

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Lack of association between the functional c-kit rs6554199 polymorphism and achalasia in a Spanish population.

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