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Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.
The Marfan syndrome is an autosomal dominant disorder with pleiotropic manifestations that involve the cardiovascular, ocular, and skeletal systems. Through a number of investigational approaches, the gene encoding for fibrillin, the FBN1 gene on chromosome 15, has been identified as the defective g...
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
1994
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC325128/ https://ncbi.nlm.nih.gov/pubmed/8180508 |
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