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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Bibliografiska uppgifter
Huvudupphovsmän: Furtado, Larissa V, Wooderchak-Donahue, Whitney, Rope, Alan F, Yetman, Angela T, Lewis, Tracey, Plant, Parker, Bayrak-Toydemir, Pinar
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2011
Ämnen:
Research Article
Länkar: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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