Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

BACKGROUND: Thoracic aortic aneurysms and dissections (TAAD) may have a heritable cause in up to 20% of cases. We aimed to investigate the pathogenic effect of a TGFBR1 mutation in relation to TAAD. METHODS: Co‐segregation analysis was performed followed by functional investigations, including myoge...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Cozijnsen, Luc, Plomp, Astrid S., Post, Jan G., Pals, Gerard, Bogunovic, Natalija, Yeung, Kak K., Niessen, Hans W. M., Goumans, Marie‐José T. H., Barge‐Schaapveld, Daniela Q. C. M., Micha, Dimitra
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6785444/
https://ncbi.nlm.nih.gov/pubmed/31475485
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.943
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