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

Access to Document

10.1007/s00431-014-2313-7

Cite this

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

@article{a0d52c3cccf24673abfc3be7bc278be4,

title = "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",

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",

year = "2014",

doi = "10.1007/s00431-014-2313-7",

language = "Undefined/Unknown",

volume = "173",

pages = "1695--1698",

journal = "European Journal of Pediatrics",

issn = "0340-6199",

publisher = "Springer Verlag",

number = "12",

}

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. et al.

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

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

TY - JOUR

T1 - 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

AU - Overwater, E.

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.

PY - 2014

Y1 - 2014

U2 - 10.1007/s00431-014-2313-7

DO - 10.1007/s00431-014-2313-7

M3 - Article

C2 - 24723092

VL - 173

SP - 1695

EP - 1698

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

SN - 0340-6199

IS - 12

ER -