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.P. van Tintelen

doi:10.1007/BF03091743

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.P. van Tintelen

Human genetics

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

Original language	Undefined/Unknown
Pages (from-to)	85-89
Journal	Netherlands Heart Journal
Volume	18
Issue number	2
DOIs	https://doi.org/10.1007/BF03091743
Publication status	Published - 2010

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10.1007/BF03091743

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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. P. (2010). Recurrent and founder mutations in the Netherlands Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation. Netherlands Heart Journal, 18(2), 85-89. https://doi.org/10.1007/BF03091743

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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.P.",

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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, JP 2010, 'Recurrent and founder mutations in the Netherlands Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation', Netherlands Heart Journal, vol. 18, no. 2, pp. 85-89. https://doi.org/10.1007/BF03091743

TY - JOUR

T1 - Recurrent and founder mutations in the Netherlands Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

AU - Aalberts, J.J.J.

AU - Schuurman, A.G.

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.P.

PY - 2010

Y1 - 2010

U2 - 10.1007/BF03091743

DO - 10.1007/BF03091743

M3 - Article

VL - 18

SP - 85

EP - 89

JO - Netherlands Heart Journal

JF - Netherlands Heart Journal

SN - 1568-5888

IS - 2

ER -