Early somatic mosaicism is a rare cause of long-QT syndrome

Somatic mosaicism, the occurrence and propagation of genetic variation in cell lineages after fertilization, is increasingly recognized to play a causal role in a variety of human diseases. We investigated the case of life-threatening arrhythmia in a 10-day-old infant with long QT syndrome (LQTS). R...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Priest, James Rush, Gawad, Charles, Kahlig, Kristopher M., Yu, Joseph K., O’Hara, Thomas, Boyle, Patrick M., Rajamani, Sridharan, Clark, Michael J., Garcia, Sarah T. K., Ceresnak, Scott, Harris, Jason, Boyle, Sean, Dewey, Frederick E., Malloy-Walton, Lindsey, Dunn, Kyla, Grove, Megan, Perez, Marco V., Neff, Norma F., Chen, Richard, Maeda, Katsuhide, Dubin, Anne, Belardinelli, Luiz, West, John, Antolik, Christian, Macaya, Daniela, Quertermous, Thomas, Trayanova, Natalia A., Quake, Stephen R., Ashley, Euan A.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2016
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5068256/
https://ncbi.nlm.nih.gov/pubmed/27681629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1607187113
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