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Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
We studied fibrillin synthesis in cultured fibroblasts from 11 members of a three-generation family with Marfan syndrome, caused by a large in-frame deletion in FBN1 (the fibrillin gene) leading to a loss of 366 bases in the corresponding fibrillin mRNA. Metabolic labelling with [35S]Met/Cys and SDS...
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1994
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1137314/ https://ncbi.nlm.nih.gov/pubmed/7945217 |
| Oznake: |
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