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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Title:	The Clinical Spectrum of Missense Mutations of the First Aspartic Acid of cbEGF-like Domains in Fibrillin-1, Including a Recessive Family.
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. (079063632) Breuning, M.H. Pals, G. (152870326)
Publication year:	2010
Document type:	Article / Letter to editor
Journal:	Human Mutation
ISSN:	1059-7794
Volume:	vol. 31
Issue:	iss. 12
Start page:	p. E915
End page:	p. 27
Subject:	DCN 2: Functional Neurogenomics IGMD 3: Genomic disorders and inherited multi-system disorders
Organization:	UMCN Extern Human Genetics
Appears in Collections:	Academic bibliography

Please use this identifier to cite or link to this item: http://hdl.handle.net/2066/89017