Evidence for a functional genetic polymorphism of the human retinoic acid–metabolizing enzyme CYP26A1, an enzyme that may be involved in spina bifida

Abstract

Despite the fact that our findings could not show any evidence that the CYP26A1 genetic polymorphism has implications in the pathogenesis of spina bifida, this work represents the first description of a functional genetic polymorphism affecting the coding sequence of the human CYP26A1 gene.