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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書誌詳細
出版年:Hum Mol Genet
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2019
主題:
General Article
オンライン･アクセス: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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