2 doctors weighed in:

How does a mutation in the fbn1 gene affect the structure and function in fibrillin-1 protein?

2 doctors weighed in
Dr. Ivelisse Rivera-Godreau
Family Medicine
1 doctor agrees

In brief: Major substrate

Fibrillin is a major building block of microfibrils which constitute part of the important substrate for the connective tissue so developing a defective pattern.
I guess you might be asking about marfans syndrome which is the ailment associated with the fbn1 gene mutation. This is the background problem to the cardiac, ocular and musculoskeletal issues that caracterize marfans.

In brief: Major substrate

Fibrillin is a major building block of microfibrils which constitute part of the important substrate for the connective tissue so developing a defective pattern.
I guess you might be asking about marfans syndrome which is the ailment associated with the fbn1 gene mutation. This is the background problem to the cardiac, ocular and musculoskeletal issues that caracterize marfans.
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