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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

BACKGROUND: Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and...

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Bibliografische gegevens
Gepubliceerd in:Genome Med
Hoofdauteurs: Li, Alexander H., Hanchard, Neil A., Furthner, Dieter, Fernbach, Susan, Azamian, Mahshid, Nicosia, Annarita, Rosenfeld, Jill, Muzny, Donna, D’Alessandro, Lisa C. A., Morris, Shaine, Jhangiani, Shalini, Parekh, Dhaval R., Franklin, Wayne J., Lewin, Mark, Towbin, Jeffrey A., Penny, Daniel J., Fraser, Charles D., Martin, James F., Eng, Christine, Lupski, James R., Gibbs, Richard A., Boerwinkle, Eric, Belmont, John W.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2017
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5664429/
https://ncbi.nlm.nih.gov/pubmed/29089047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0482-5
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