تحميل...
Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1
Loeys–Dietz syndrome (LDS) is caused by variants of transforming growth factor-β (TGF-β)-related genes and is characterized by aortic aneurysm and dissection. We report an LDS patient with a de novo missense variant of TGFBR1 [c.1126A>G, p.(Lys376Glu)] in which active TGF-β signaling was observed...
محفوظ في:
| الحاوية / القاعدة: | Hum Genome Var |
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| المؤلفون الرئيسيون: | , , , , , , , , |
| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
Nature Publishing Group UK
2019
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6338757/ https://ncbi.nlm.nih.gov/pubmed/30701076 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0038-x |
| الوسوم: |
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