The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1 Including a Recessive Family

Yvonne Hilhorst-Hofstee*, Marry E. B. Rijlaarsdam, Arthur J. H. A. Scholte, Marietta Swart-van den Berg, Michel I. M. Versteegh, Iris van der Schoot-van Velzen, Hans-Joachim Schaebitz, Emilia K. Bijlsma, Marieke J. Baars, Wilhelmina S. Kerstjens-Frederikse, Jacques C. Giltay, Ben C. Hamel, Martijn H. Breuning, Gerard Pals

*Corresponding author for this work

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

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    Biochemistry, Genetics and Molecular Biology

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