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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Hlavní autoři: Judge, Daniel P., Biery, Nancy J., Keene, Douglas R., Geubtner, Jessica, Myers, Loretha, Huso, David L., Sakai, Lynn Y., Dietz, Harry C.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2004
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Article
On-line přístup: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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