Four novel fbn1 mutations: Significance for mutant transcript level and egf-like domain calcium binding in the pathogenesis of marfan syndrome

Harry C. Dietz, Iain McIntosh, Lynn Y. Sakai, Glen M. Corson, Stephen C. Chalberg, Reed E. Pyeritz, Clair A. Francomano

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243 Scopus citations

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Medicine & Life Sciences