Article

Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome

2004-07-15

Abstract excerpt

Marfan syndrome is a connective tissue disorder caused by mutations in the gene encoding fibrillin-1 (FBN1). A dominant-negative mechanism has been inferred based upon dominant inheritance, mulitimerization of monomers to form microfibrils, and the dramatic paucity of matrix-incorporated fibrillin-1 seen in heterozygous patient samples. Yeast artificial chromosome-based transgenesis was used to overexpress a disea...

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Literature Corpus work: 6f5ecdb9-c24e-558f-8486-bd2cacdd70a7
DOI: 10.1172/jci200420641

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