The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation

E. Overwater; Y.M. Smulders; M. van der Burg; M.P. Lombardi; H.E. Meijers-Heijboer; T.W. Kuijpers; A.C. Houweling

doi:10.1007/s00431-014-2313-7

The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation

E. Overwater, Y.M. Smulders, M. van der Burg, M.P. Lombardi, H.E. Meijers-Heijboer, T.W. Kuijpers, A.C. Houweling

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

Original language	Undefined/Unknown
Pages (from-to)	1695-1698
Journal	European Journal of Pediatrics
Volume	173
Issue number	12
DOIs	https://doi.org/10.1007/s00431-014-2313-7
Publication status	Published - 2014

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10.1007/s00431-014-2313-7

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Overwater, E., Smulders, Y. M., van der Burg, M., Lombardi, M. P., Meijers-Heijboer, H. E., Kuijpers, T. W., & Houweling, A. C. (2014). The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation. European Journal of Pediatrics, 173(12), 1695-1698. https://doi.org/10.1007/s00431-014-2313-7

Overwater, E. ; Smulders, Y.M. ; van der Burg, M. ; Lombardi, M.P. ; Meijers-Heijboer, H.E. ; Kuijpers, T.W. ; Houweling, A.C. / The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation. In: European Journal of Pediatrics. 2014 ; Vol. 173, No. 12. pp. 1695-1698.

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author = "E. Overwater and Y.M. Smulders and {van der Burg}, M. and M.P. Lombardi and H.E. Meijers-Heijboer and T.W. Kuijpers and A.C. Houweling",

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Overwater, E, Smulders, YM, van der Burg, M, Lombardi, MP, Meijers-Heijboer, HE, Kuijpers, TW & Houweling, AC 2014, 'The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation', European Journal of Pediatrics, vol. 173, no. 12, pp. 1695-1698. https://doi.org/10.1007/s00431-014-2313-7

The value of DNA storage and pedigree analysis in rare diseases: a 17-year-old boy with X-linked lymphoproliferative disease (XLP) caused by a de novo SH2D1A mutation. / Overwater, E.; Smulders, Y.M.; van der Burg, M.; Lombardi, M.P.; Meijers-Heijboer, H.E.; Kuijpers, T.W.; Houweling, A.C.

In: European Journal of Pediatrics, Vol. 173, No. 12, 2014, p. 1695-1698.

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

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AU - Smulders, Y.M.

AU - van der Burg, M.

AU - Lombardi, M.P.

AU - Meijers-Heijboer, H.E.

AU - Kuijpers, T.W.

AU - Houweling, A.C.

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JO - European Journal of Pediatrics

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