Article
Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.
Clinical and experimental rheumatology - 1 Jan 2000
van Well Gijs T J, Kant Benjamin, van Nistelrooij Annabel, Sirma Ekmekci Sema, Henriet Stefanie V, Hoppenreijs Esther, van Deuren Marcel, van Montfrans Joris, Nierkens Stefan, Gül Ahmet, van Gijn Mariëlle E
Abstract excerpt
OBJECTIVES: 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). METHODS: We present case synopses of six patients from three unrelated families. Clinical data were analysed and next-generation sequencing (NGS) was performed. We also tested for aberrant...
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