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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2020
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581429/
https://www.ncbi.nlm.nih.gov/pubmed/33006316
http://dx.doi.org/10.7554/eLife.59554

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581429/
https://www.ncbi.nlm.nih.gov/pubmed/33006316
http://dx.doi.org/10.7554/eLife.59554

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