Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

J.J.J. Aalberts, A.G. Schuurman, G. Pals, B.J.C. Hamel, G. Bosman, Y. Hilhorst-Hofstee, D.Q.C.M. Barge-Schaapveld, B.J.M. Mulder, M.P. van den Berg, J. van Tintelen

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Original languageEnglish
Title of host publicationFounder mutations in inherited cardiac diseases in the Netherlands
Pages89-94
DOIs
Publication statusPublished - 2014

Cite this

Aalberts, J. J. J., Schuurman, A. G., Pals, G., Hamel, B. J. C., Bosman, G., Hilhorst-Hofstee, Y., ... van Tintelen, J. (2014). Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation. In Founder mutations in inherited cardiac diseases in the Netherlands (pp. 89-94) https://doi.org/10.1007/978-90-368-0705-0_12
Aalberts, J.J.J. ; Schuurman, A.G. ; Pals, G. ; Hamel, B.J.C. ; Bosman, G. ; Hilhorst-Hofstee, Y. ; Barge-Schaapveld, D.Q.C.M. ; Mulder, B.J.M. ; van den Berg, M.P. ; van Tintelen, J. / Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation. Founder mutations in inherited cardiac diseases in the Netherlands. 2014. pp. 89-94
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title = "Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation",
author = "J.J.J. Aalberts and A.G. Schuurman and G. Pals and B.J.C. Hamel and G. Bosman and Y. Hilhorst-Hofstee and D.Q.C.M. Barge-Schaapveld and B.J.M. Mulder and {van den Berg}, M.P. and {van Tintelen}, J.",
year = "2014",
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Aalberts, JJJ, Schuurman, AG, Pals, G, Hamel, BJC, Bosman, G, Hilhorst-Hofstee, Y, Barge-Schaapveld, DQCM, Mulder, BJM, van den Berg, MP & van Tintelen, J 2014, Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation. in Founder mutations in inherited cardiac diseases in the Netherlands. pp. 89-94. https://doi.org/10.1007/978-90-368-0705-0_12

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation. / Aalberts, J.J.J.; Schuurman, A.G.; Pals, G.; Hamel, B.J.C.; Bosman, G.; Hilhorst-Hofstee, Y.; Barge-Schaapveld, D.Q.C.M.; Mulder, B.J.M.; van den Berg, M.P.; van Tintelen, J.

Founder mutations in inherited cardiac diseases in the Netherlands. 2014. p. 89-94.

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

TY - CHAP

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AU - Pals, G.

AU - Hamel, B.J.C.

AU - Bosman, G.

AU - Hilhorst-Hofstee, Y.

AU - Barge-Schaapveld, D.Q.C.M.

AU - Mulder, B.J.M.

AU - van den Berg, M.P.

AU - van Tintelen, J.

PY - 2014

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M3 - Chapter

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EP - 94

BT - Founder mutations in inherited cardiac diseases in the Netherlands

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Aalberts JJJ, Schuurman AG, Pals G, Hamel BJC, Bosman G, Hilhorst-Hofstee Y et al. Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation. In Founder mutations in inherited cardiac diseases in the Netherlands. 2014. p. 89-94 https://doi.org/10.1007/978-90-368-0705-0_12