Disruption of an AP-2α binding site in an IRF6 enhancer is strongly associated with cleft lip

Previously we have shown that nonsyndromic cleft lip with or without cleft palate (NSCL/P)1, is strongly associated with SNPs in Interferon Regulatory Factor 6 (IRF6)2. Here, multispecies sequence comparisons identify a common SNP (rs642961, G>A) in a novel IRF6 enhancer. The A allele is signific...

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Detalles Bibliográficos
Autores principales: Rahimov, Fedik, Marazita, Mary L., Visel, Axel, Cooper, Margaret E., Hitchler, Michael J., Rubini, Michele, Domann, Frederick E., Govil, Manika, Christensen, Kaare, Bille, Camille, Melbye, Mads, Jugessur, Astanand, Lie, Rolv T., Wilcox, Allen J., Fitzpatrick, David R., Green, Eric D., Mossey, Peter A., Little, Julian, Steegers-Theunissen, Regine P., Pennacchio, Len A., Schutte, Brian C., Murray, Jeffrey C.
Formato: Texto
Lenguaje:English
Publicado: 2008
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2691688/
https://www.ncbi.nlm.nih.gov/pubmed/18836445
http://dx.doi.org/10.1038/ng.242

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