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Marfan syndrome: current perspectives
Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an...
Tallennettuna:
| Julkaisussa: | Appl Clin Genet |
|---|---|
| Päätekijät: | , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Dove Medical Press
2016
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4869846/ https://ncbi.nlm.nih.gov/pubmed/27274304 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S96233 |
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