Article
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Human mutation - 1 Jan 1997
Hayward C, Brock D J
Abstract excerpt
Fibrillin is the major component of extracellular microfibrils and is widely distributed in connective tissue throughout the body. Mutations in the fibrillin-1 (FBN1) gene, on chromosome 15q21.1, have been found to cause Marfan syndrome, a dominantly inherited disorder characterised by clinically variable skeletal, ocular, and cardiovascular abnormalities. Fibrillin-1 mutations have also been found in several...
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