De novo mutations in histone modifying genes in congenital heart disease

Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births(1). Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. By analysis of exome sequencing of parent-offspring trios, we compared the incidence of de novo...

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Detalles Bibliográficos
Autores principales: Zaidi, Samir, Choi, Murim, Wakimoto, Hiroko, Ma, Lijiang, Jiang, Jianming, Overton, John D., Romano-Adesman, Angela, Bjornson, Robert D., Breitbart, Roger E., Brown, Kerry K., Carriero, Nicholas J., Cheung, Yee Him, Deanfield, John, DePalma, Steve, Fakhro, Khalid A., Glessner, Joseph, Hakonarson, Hakon, Italia, Michael, Kaltman, Jonathan R., Kaski, Juan, Kim, Richard, Kline, Jennie K., Lee, Teresa, Leipzig, Jeremy, Lopez, Alexander, Mane, Shrikant M., Mitchell, Laura E., Newburger, Jane W., Parfenov, Michael, Pe'er, Itsik, Porter, George, Roberts, Amy, Sachidanandam, Ravi, Sanders, Stephan J., Seiden, Howard S., State, Mathew W., Subramanian, Sailakshmi, Tikhonova, Irina R., Wang, Wei, Warburton, Dorothy, White, Peter S., Williams, Ismee A., Zhao, Hongyu, Seidman, Jonathan G., Brueckner, Martina, Chung, Wendy K., Gelb, Bruce D., Goldmuntz, Elizabeth, Seidman, Christine E., Lifton, Richard P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706629/
https://www.ncbi.nlm.nih.gov/pubmed/23665959
http://dx.doi.org/10.1038/nature12141

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