ACTA2 Gene ACTA2– The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is […]
COL3A1 Gene The COL3A1 gene provides instructions for making type III collagen. Collagens are a family of proteins that strengthen […]
TGFBR2 The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. The transforming […]
TGFBR1 Gene The TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. The […]
FBN1– Mutations in the fibrillin-1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. Mutations within the FBN1 […]
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