Authors: Schrijver, Iris Liu, Wanguo Odom, Raanan Brenn, Thomas Oefner, Peter Furthmayr, Heinz Francke, Uta

Citation: Schrijver, Iris et al., Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes, American journal of human genetics , 71(2), 2002, pp. 223-237