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Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
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...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
2004
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC449744/ https://ncbi.nlm.nih.gov/pubmed/15254584 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200420641 |
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