Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole-genome and iPSC RNA sequencing of a HLHS family-tri...

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Detaylı Bibliyografya
Yayımlandı:eLife
Asıl Yazarlar: Theis, Jeanne L, Vogler, Georg, Missinato, Maria A, Li, Xing, Nielsen, Tanja, Zeng, Xin-Xin I, Martinez-Fernandez, Almudena, Walls, Stanley M, Kervadec, Anaïs, Kezos, James N, Birker, Katja, Evans, Jared M, O'Byrne, Megan M, Fogarty, Zachary C, Terzic, André, Grossfeld, Paul, Ocorr, Karen, Nelson, Timothy J, Olson, Timothy M, Colas, Alexandre R, Bodmer, Rolf
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: eLife Sciences Publications, Ltd 2020
Konular:
Genetics and Genomics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7581429/
https://ncbi.nlm.nih.gov/pubmed/33006316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.59554
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