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Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
BACKGROUND: Connective tissue diseases characterized by aortic aneurysm, such as Marfan syndrome, Loeys-Dietz syndrome and Ehlers Danlos syndrome type IV are heterogeneous and despite overlapping phenotypes, the natural history, clinical manifestations and interventional course for each diagnosis ca...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3196690/ https://ncbi.nlm.nih.gov/pubmed/21936929 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-119 |
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