Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

TGF-β-related heritable connective tissue disorders are characterized by a similar pattern of cardiovascular defects, including aortic root dilatation, mitral valve prolapse, vascular aneurysms, and vascular dissections and exhibit incomplete penetrance and variable expressivity. Because of the phen...

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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: Cousin, Margot A., Zimmermann, Michael T., Mathison, Angela J., Blackburn, Patrick R., Boczek, Nicole J., Oliver, Gavin R., Lomberk, Gwen A., Urrutia, Raul A., Deyle, David R., Klee, Eric W.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5495030/
https://ncbi.nlm.nih.gov/pubmed/28679693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001727
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