Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy

J Geelen; R Pfundt; J Meijer; Frans Verheijen; ABP van Kuilenburg; A Warris; C Marcelis

doi:10.1016/j.jaci.2012.11.006

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy

J Geelen, R Pfundt, J Meijer, Frans Verheijen, ABP van Kuilenburg, A Warris, C Marcelis

Clinical Genetics

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

3 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	222-223
Number of pages	2
Journal	Journal of Allergy and Clinical Immunology
Volume	132
Issue number	1
DOIs	https://doi.org/10.1016/j.jaci.2012.11.006
Publication status	Published - 2013

Access to Document

10.1016/j.jaci.2012.11.006

http://hdl.handle.net/1765/52759

Cite this

Geelen, J., Pfundt, R., Meijer, J., Verheijen, F., van Kuilenburg, ABP., Warris, A., & Marcelis, C. (2013). Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy. Journal of Allergy and Clinical Immunology, 132(1), 222-223. https://doi.org/10.1016/j.jaci.2012.11.006

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title = "Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy",

author = "J Geelen and R Pfundt and J Meijer and Frans Verheijen and {van Kuilenburg}, ABP and A Warris and C Marcelis",

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Geelen, J, Pfundt, R, Meijer, J, Verheijen, F, van Kuilenburg, ABP, Warris, A & Marcelis, C 2013, 'Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy', Journal of Allergy and Clinical Immunology, vol. 132, no. 1, pp. 222-223. https://doi.org/10.1016/j.jaci.2012.11.006

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T1 - Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy

AU - Geelen, J

AU - Pfundt, R

AU - Meijer, J

AU - Verheijen, Frans

AU - van Kuilenburg, ABP

AU - Warris, A

AU - Marcelis, C

PY - 2013

Y1 - 2013

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DO - 10.1016/j.jaci.2012.11.006

M3 - Article

SN - 0091-6749

VL - 132

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EP - 223

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

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