A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.

E.D.R. Elstak; Kiki Tesselaar; M. te Loo; P.J.M. van Kerkhof; J. Loeffen; D. Grivas; E. Hennekam; J.J. Boelens; P.M. Hoogerbrugge; P. van der Sluijs; M.E. van Gijn; C.J.D. van de Corput

doi:10.1002/pbc.23253

A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.

Translated title of the contribution: A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.

E.D.R. Elstak, Kiki Tesselaar, M. te Loo, P.J.M. van Kerkhof, J. Loeffen, D. Grivas, E. Hennekam, J.J. Boelens, P.M. Hoogerbrugge, P. van der Sluijs, M.E. van Gijn, C.J.D. van de Corput

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

Translated title of the contribution	A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.
Original language	Undefined/Unknown
Pages (from-to)	598-605
Number of pages	8
Journal	Pediatric Blood & Cancer
Volume	58
Issue number	4
DOIs	https://doi.org/10.1002/pbc.23253
Publication status	Published - 2012

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10.1002/pbc.23253

http://www.ncbi.nlm.nih.gov/pubmed/21755595

Cite this

Elstak, E. D. R., Tesselaar, K., te Loo, M., van Kerkhof, P. J. M., Loeffen, J., Grivas, D., Hennekam, E., Boelens, J. J., Hoogerbrugge, P. M., van der Sluijs, P., van Gijn, M. E., & van de Corput, C. J. D. (2012). A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function. Pediatric Blood & Cancer, 58(4), 598-605. https://doi.org/10.1002/pbc.23253

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author = "E.D.R. Elstak and Kiki Tesselaar and {te Loo}, M. and {van Kerkhof}, P.J.M. and J. Loeffen and D. Grivas and E. Hennekam and J.J. Boelens and P.M. Hoogerbrugge and {van der Sluijs}, P. and {van Gijn}, M.E. and {van de Corput}, C.J.D.",

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Elstak, EDR, Tesselaar, K, te Loo, M, van Kerkhof, PJM, Loeffen, J, Grivas, D, Hennekam, E, Boelens, JJ, Hoogerbrugge, PM, van der Sluijs, P, van Gijn, ME & van de Corput, CJD 2012, 'A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.', Pediatric Blood & Cancer, vol. 58, no. 4, pp. 598-605. https://doi.org/10.1002/pbc.23253

TY - JOUR

T1 - A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function.

AU - Elstak, E.D.R.

AU - Tesselaar, Kiki

AU - te Loo, M.

AU - van Kerkhof, P.J.M.

AU - Loeffen, J.

AU - Grivas, D.

AU - Hennekam, E.

AU - Boelens, J.J.

AU - Hoogerbrugge, P.M.

AU - van der Sluijs, P.

AU - van Gijn, M.E.

AU - van de Corput, C.J.D.

PY - 2012

Y1 - 2012

U2 - 10.1002/pbc.23253

DO - 10.1002/pbc.23253

M3 - Article

C2 - 21755595

SN - 1545-5009

VL - 58

SP - 598

EP - 605

JO - Pediatric Blood & Cancer

JF - Pediatric Blood & Cancer

IS - 4

ER -