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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...
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| 發表在: | Appl Clin Genet |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Dove Medical Press
2016
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| 主題: | |
| 在線閱讀: | 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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