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

Tarih
2019
Yazar
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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Özet
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).
Bağlantı
http://hdl.handle.net/20.500.12627/97905
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