Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2814041 | European Journal of Medical Genetics | 2010 | 4 Pages |
Abstract
The Fibrillin-1 gene (FBN1; chromosome 15q21.1) encodes a major glycoprotein component of the extracellular matrix. Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder. In the present study, we describe five novel missense FBN1 mutations in five Marfan patients that have the peculiarity to activate two contemporary mutational mechanisms: a missense mutation and exon skipping.
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Authors
L. Evangelisti, L. Lucarini, M. Attanasio, I. Lapini, B. Giusti, C. Porciani, G.F. Gensini, R. Abbate, G. Pepe,