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FBN1 gene, fibrillin 1

The FBN1 gene provides instructions for making a large protein called fibrillin-1. This protein is transported out of cells into the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells.

Endoscopic Retrograde Cholangiopancreatography (ERCP)

Endoscopic retrograde cholangiopancreatography (ERCP) is a procedure that combines upper gastrointestinal (GI) endoscopy and x-rays to treat problems of the bile and pancreatic ducts.

Polymerase Chain Reaction (PCR) Testing

The polymerase chain reaction (PCR) is a fast and inexpensive technique used to "amplify" - copy - small segments of DNA to enable testing.

The SERPINA1 Gene, serpin family A member 1

The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin, which is a type of serine protease inhibitor (serpin)