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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns
BACKGROUND: Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and...
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Gepubliceerd in: | Genome Med |
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Hoofdauteurs: | , , , , , , , , , , , , , , , , , , , , , , |
Formaat: | Artigo |
Taal: | Inglês |
Gepubliceerd in: |
BioMed Central
2017
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Onderwerpen: | |
Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5664429/ https://ncbi.nlm.nih.gov/pubmed/29089047 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-017-0482-5 |
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