Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is caused by mutations in TGFβ/BMP9 pathway genes and characterized by vascular malformations (VM) including arteriovenous malformations (AVM) in lung, liver, and brain, which lead to severe complications including intracranial hemorrhage (ICH)...

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Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Pawlikowska, Ludmila, Nelson, Jeffrey, Guo, Diana E., McCulloch, Charles E., Lawton, Michael T., Kim, Helen, Faughnan, Marie E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2018
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6014448/
https://ncbi.nlm.nih.gov/pubmed/29932521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.377
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