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

Research output: Contribution to journal › Article › peer-review

267 Scopus citations

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Medicine & Life Sciences