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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Pawlikowska, Ludmila, Nelson, Jeffrey, Guo, Diana E., McCulloch, Charles E., Lawton, Michael T., Kim, Helen, Faughnan, Marie E.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
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Original Articles
Acesso em linha: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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