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

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Publication year
2010
Author(s)
Hilhorst-Hofstee, Y.
Rijlaarsdam, M.E.
Scholte, A.J.H.A.
Swart-van den Berg, M.
Versteegh, M.I.
Schoot-van Velzen, I. van der
Schabitz, H.J.
Bijlsma, E.K.
Baars, M.J.
Kerstjens-Frederikse, W.S.
Giltay, J.
Hamel, B.C.J.
Breuning, M.H.
Pals, G.
Source
Human Mutation, 31, 12, (2010), pp. E915-27
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Publication type
Article / Letter to editor
If a DOI or any other persistent identifier is unavailable, please use the following repository identifier to link to this item: https://hdl.handle.net/2066/89017   https://hdl.handle.net/2066/89017
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