TGFBR1mutations associated with Loeys-Dietz syndrome are inactivating
Author:
Publisher
Informa UK Limited
Subject
Cell Biology,Molecular Biology,Biochemistry
Link
http://www.tandfonline.com/doi/pdf/10.3109/10799893.2012.664553
Reference26 articles.
1. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
2. Heterozygous TGFBR2 mutations in Marfan syndrome
3. Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor
4. SPECIFICITY AND VERSATILITY IN TGF-β SIGNALING THROUGH SMADS
5. GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex.
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