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Biochemistry Miscellaneous 32dbdbb3

Marfan syndrome is due to mutation of:

A
Collagen
B
Elastin
C
Fibrillin
D
Fibronectin
High-Yield Explanation
Marfan syndrome is caused by mutations in the FBN1 gene on chromosome 15, which encodes Fibrillin-1. Fibrillin normally binds to TGF-b (Transforming Growth Factor) Mutated fibrillin can't bind to TGF-b. Elevated levels of TGF-b contribute to the features of Ectopia lentis, arachnodactyly, and aoic dilatation.

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