The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

Y. Hilhorst-Hofstee; M.E. Rijlaarsdam; A.J. Scholten; M. Swart; M.I. Versteegh; I. Schoot; H.J. Schabitz; E.K. Bijlsma; M.J. Baars; W.S. Kerstjens-Frederikse; J.C. Giltay; B.C.J. Hamel; M.H. Breuning; G. Pals

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

Translated title of the contribution: The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

Y. Hilhorst-Hofstee
, M.E. Rijlaarsdam
, A.J. Scholten
, M. Swart
, M.I. Versteegh
, I. Schoot
, H.J. Schabitz
, E.K. Bijlsma
, M.J. Baars
, W.S. Kerstjens-Frederikse
, J.C. Giltay
, B.C.J. Hamel
, M.H. Breuning
, G. Pals

Research output: Contribution to journal › Article › Academic

Translated title of the contribution	The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family
Original language	Undefined/Unknown
Pages (from-to)	E1915-27
Number of pages	13
Journal	Human Mutation
Volume	31
Issue number	12
Publication status	Published - 2010

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed/20886638

Cite this

Hilhorst-Hofstee, Y., Rijlaarsdam, M. E., Scholten, A. J., Swart, M., Versteegh, M. I., Schoot, I., Schabitz, H. J., Bijlsma, E. K., Baars, M. J., Kerstjens-Frederikse, W. S., Giltay, J. C., Hamel, B. C. J., Breuning, M. H., & Pals, G. (2010). The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family. Human Mutation, 31(12), E1915-27. http://www.ncbi.nlm.nih.gov/pubmed/20886638

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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 = "Y. Hilhorst-Hofstee and M.E. Rijlaarsdam and A.J. Scholten and M. Swart and M.I. Versteegh and I. Schoot and H.J. Schabitz and E.K. Bijlsma and M.J. Baars and W.S. Kerstjens-Frederikse and J.C. Giltay and B.C.J. Hamel and M.H. Breuning and G. Pals",

year = "2010",

language = "Undefined/Unknown",

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Hilhorst-Hofstee, Y, Rijlaarsdam, ME, Scholten, AJ, Swart, M, Versteegh, MI, Schoot, I, Schabitz, HJ, Bijlsma, EK, Baars, MJ, Kerstjens-Frederikse, WS, Giltay, JC, Hamel, BCJ, Breuning, MH & Pals, G 2010, 'The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family', Human Mutation, vol. 31, no. 12, pp. E1915-27. <http://www.ncbi.nlm.nih.gov/pubmed/20886638>

TY - JOUR

T1 - The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

AU - Hilhorst-Hofstee, Y.

AU - Rijlaarsdam, M.E.

AU - Scholten, A.J.

AU - Swart, M.

AU - Versteegh, M.I.

AU - Schoot, I.

AU - Schabitz, H.J.

AU - Bijlsma, E.K.

AU - Baars, M.J.

AU - Kerstjens-Frederikse, W.S.

AU - Giltay, J.C.

AU - Hamel, B.C.J.

AU - Breuning, M.H.

AU - Pals, G.

PY - 2010

Y1 - 2010

M3 - Article

SN - 1059-7794

VL - 31

SP - E1915-27

JO - Human Mutation

JF - Human Mutation

IS - 12

ER -