Model system identification of novel congenital heart disease gene candidates: focus on RPL13

Genetics is a significant factor contributing to congenital heart disease (CHD), but our understanding of the genetic players and networks involved in CHD pathogenesis is limited. Here, we searched for de novo copy number variations (CNVs) in a cohort of 167 CHD patients to identify DNA segments con...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Schroeder, Analyne M, Allahyari, Massoud, Vogler, Georg, Missinato, Maria A, Nielsen, Tanja, Yu, Michael S, Theis, Jeanne L, Larsen, Lars A, Goyal, Preeya, Rosenfeld, Jill A, Nelson, Timothy J, Olson, Timothy M, Colas, Alexandre R, Grossfeld, Paul, Bodmer, Rolf
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7202142/
https://ncbi.nlm.nih.gov/pubmed/31625562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz213
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