van Well G. T. J., Kant B., van Nistelrooij A., Ekmekci S. S., Henriet S. S. V., Hoppenreijs E., ...Daha Fazla
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, cilt.37, sa.6, ss.142-146, 2019 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
37
Sayı:
6
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Basım Tarihi:
2019
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Dergi Adı:
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.142-146
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Anahtar Kelimeler:
ADA2, DADA2, systemic inflammation, vasculitis, polyarteritis nodosa, early-onset stroke, Behcet's disease-like manifestations, splice site mutation, genotype, phenotype, ADENOSINE-DEAMINASE 2, POLYARTERITIS-NODOSA, DEFICIENCY, CECR1
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İstanbul Üniversitesi Adresli:
Evet
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).