Article
Association between CFL1 gene polymorphisms and spina bifida risk in a California population.
BMC medical genetics - 12 Mar 2007
Zhu Huiping, Enaw James O Ebot, Ma Chen, Shaw Gary M, Lammer Edward J, Finnell Richard H
Abstract excerpt
BACKGROUND: CFL1 encodes human non-muscle cofilin (n-cofilin), which is an actin-depolymerizing factor and is essential in cytokinesis, endocytosis, and in the development of all embryonic tissues. Cfl1 knockout mice exhibit failure of neural tube closure at E10.5 and die in utero. We hypothesized that genetic variation within the human CFL1 gene may alter the protein's function and result in defective actin...
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