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- W2313222092 abstract "Objectives: Mutations in the Fibrillin-1 gene (FBN1) are the major cause of Marfan Syndrome (MfS) and are also associated with isolated aneurysms/dissections. Up to now, genetic analysis of FBN1 was restricted to a small number of patients, due to the limited availability of sensitive high-throughput/low-cost methods. The objective of this study is to establish a fast protocol based on DNA-sequencing, the gold standard of mutation detection." @default.
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- W2313222092 date "2005-01-18" @default.
- W2313222092 modified "2023-09-27" @default.
- W2313222092 title "Optimized molecular genetic diagnostics of the Fibrillin-1 gene in patients with thoracic aortic aneurysms/dissections" @default.
- W2313222092 doi "https://doi.org/10.1055/s-2005-862130" @default.
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