Loss of Function Mutations in NNT Are Associated with Left Ventricular Noncompaction

BACKGROUND: Left ventricular noncompaction (LVNC) is an autosomal dominant, genetically heterogeneous cardiomyopathy with variable severity, which may co-occur with cardiac hypertrophy. METHODS AND RESULTS: Here, we generated whole exome sequence (WES) data from multiple members from five families w...

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Vydáno v:Circ Cardiovasc Genet
Hlavní autoři: Bainbridge, Matthew N., Davis, Erica E., Choi, Wen-Yee, Dickson, Amy, Martinez, Hugo R., Wang, Min, Dinh, Huyen, Muzny, Donna, Pignatelli, Ricardo, Katsanis, Nicholas, Boerwinkle, Eric, Gibbs, Richard, Jefferies, John L.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4545476/
https://ncbi.nlm.nih.gov/pubmed/26025024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.115.001026
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