Article
[Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome].
Archives des maladies du coeur et des vaisseaux - 1 Dec 1997
Boileau C, Collod G, Bonnet D
Abstract excerpt
The anatomical substrate of Marfan's syndrome is a degeneration of elastic fibres and disorganization of the collagen. It is now known that these lesions are due to mutation of genes localised on chromosome 15. The first of them (FBN1) codes for the main constitutive protein of the elastic tissue: fibrillin 1, present mainly in structures which must resist load and stress (aortic adventitia, the suspending...
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