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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Εκδόθηκε σε:	J Clin Invest
Κύριοι συγγραφείς:	Judge, Daniel P., Biery, Nancy J., Keene, Douglas R., Geubtner, Jessica, Myers, Loretha, Huso, David L., Sakai, Lynn Y., Dietz, Harry C.
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	American Society for Clinical Investigation 2004
Θέματα:	Article
Διαθέσιμο Online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC449744/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15254584/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI20641
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