Phenotypic variability including Behcet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A > G splice site mutation

Date
2019
Author
Nierkens, S.
Ekmekci, S. Sirma
van Montfrans, J.
van Gijn, M. E.
Gul, A.
van Well, G. T. J.
Kant, B.
van Nistelrooij, A.
Henriet, S. S. V.
Hoppenreijs, E.
van Deuren, M.
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Abstract
Objective. To describe phenotypic and functional characteristics of patients with the homozygous c.973-2A>G splice site mutation in the adenosine deaminase 2 (ADA2) gene (rs139750129), resulting in deficiency of ADA2 (DADA2).
URI
http://hdl.handle.net/20.500.12627/97905
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