The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into…
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength…
Also known as LDS or Loeys-Dietz aortic aneurysm syndrome, this is a disorder that affects the connective tissue in many…
The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin, which is a type of serine protease inhibitor…
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of…
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