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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Detaylı Bibliyografya
Yayımlandı:Hum Mol Genet
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2019
Konular:
General Article
Online Erişim: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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