Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.

doi:10.1093/hmg/5.10.1581

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Article

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.

Human molecular genetics - 1 Oct 1996

Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U

Abstract excerpt

Marfan syndrome (MFS), a heritable connective tissue disorder, is caused by mutations in the gene coding for fibrillin-1 (FBN1), an extracellular matrix protein. One of the three major categories of FBN1 mutations involves exon-skipping. To rapidly detect such mutations, we developed a long RT-PC...

Topics

Epidermal Growth Factor
Exons
Fibrillin-1
Fibrillins
Humans
Marfan Syndrome
Microfilament Proteins
Mutation
Polymerase Chain Reaction

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