EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

BACKGROUND: The contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tissue has not been determined. METHODS: We developed a new co...

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Detalles Bibliográficos
Autores principales: Hsieh, Alexander, Morton, Sarah U., Willcox, Jon A. L., Gorham, Joshua M., Tai, Angela C., Qi, Hongjian, DePalma, Steven, McKean, David, Griffin, Emily, Manheimer, Kathryn B., Bernstein, Daniel, Kim, Richard W., Newburger, Jane W., Porter, George A., Srivastava, Deepak, Tristani-Firouzi, Martin, Brueckner, Martina, Lifton, Richard P., Goldmuntz, Elizabeth, Gelb, Bruce D., Chung, Wendy K., Seidman, Christine E., Seidman, J. G., Shen, Yufeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7189690/
https://www.ncbi.nlm.nih.gov/pubmed/32349777
http://dx.doi.org/10.1186/s13073-020-00738-1

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