Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

doi:10.1093/hmg/4.suppl_1.1799

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Article

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

Human molecular genetics - 1 Jan 1995

Dietz H C, Pyeritz R E

Abstract excerpt

The extracellular microfibril, 10-14 nm in diameter, performs a number of functions, including serving as the scaffolding for deposition of tropoelastin to form elastic fibers. A variety of proteins compose the structure of microfibrils, the most prominent of which are the two fibrillins. Fibrill...

Topics

Fibrillin-1
Fibrillin-2
Fibrillins
Humans
Marfan Syndrome
Microfilament Proteins
Mutation

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