Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

D. Beltran-Valero de Bernabé; T. Voit; C. Longman; A. Steinbrecher; V. Straub; Y. Yuva; R. Herrmann; J. Sperner; C. Korenke; C. Diesen; W. B. Dobyns; H. G. Brunner; H. van Bokhoven; M. Brockington; F. Muntoni

doi:10.1136/jmg.2003.013870

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

D. Beltran-Valero de Bernabé, T. Voit, C. Longman, A. Steinbrecher, V. Straub, Y. Yuva, R. Herrmann, J. Sperner, C. Korenke, C. Diesen, W. B. Dobyns, H. G. Brunner, H. van Bokhoven, M. Brockington, F. Muntoni

Research output: Contribution to journal › Letter › peer-review

224 Scopus citations

Original language	English (US)
Pages (from-to)	e61
Journal	Journal of medical genetics
Volume	41
Issue number	5
DOIs	https://doi.org/10.1136/jmg.2003.013870
State	Published - May 2004
Externally published	Yes

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10.1136/jmg.2003.013870

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Beltran-Valero de Bernabé, D., Voit, T., Longman, C., Steinbrecher, A., Straub, V., Yuva, Y., Herrmann, R., Sperner, J., Korenke, C., Diesen, C., Dobyns, W. B., Brunner, H. G., van Bokhoven, H., Brockington, M., & Muntoni, F. (2004). Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. Journal of medical genetics, 41(5), e61. https://doi.org/10.1136/jmg.2003.013870

Beltran-Valero de Bernabé, D, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, WB, Brunner, HG, van Bokhoven, H, Brockington, M & Muntoni, F 2004, 'Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.', Journal of medical genetics, vol. 41, no. 5, pp. e61. https://doi.org/10.1136/jmg.2003.013870

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title = "Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.",

author = "{Beltran-Valero de Bernab{\'e}}, D. and T. Voit and C. Longman and A. Steinbrecher and V. Straub and Y. Yuva and R. Herrmann and J. Sperner and C. Korenke and C. Diesen and Dobyns, {W. B.} and Brunner, {H. G.} and {van Bokhoven}, H. and M. Brockington and F. Muntoni",

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AU - Beltran-Valero de Bernabé, D.

AU - Voit, T.

AU - Longman, C.

AU - Steinbrecher, A.

AU - Straub, V.

AU - Yuva, Y.

AU - Herrmann, R.

AU - Sperner, J.

AU - Korenke, C.

AU - Diesen, C.

AU - Dobyns, W. B.

AU - Brunner, H. G.

AU - van Bokhoven, H.

AU - Brockington, M.

AU - Muntoni, F.

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JO - Journal of medical genetics

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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.

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