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A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.
Kuehn HS, Bernasconi A, Niemela JE, Almejun MB, Gallego WAF, Goel S, Stoddard JL, Sánchez RGP, Franco CAA, Oleastro M, Grunebaum E, Ballas Z, Cunningham-Rundles C, Fleisher TA, Franco JL, Danielian S, Rosenzweig SD. Kuehn HS, et al. Among authors: danielian s. J Clin Immunol. 2020 Nov;40(8):1093-1101. doi: 10.1007/s10875-020-00842-2. Epub 2020 Aug 19. J Clin Immunol. 2020. PMID: 32813180 Free PMC article.
Bruton tyrosine kinase gene mutations in Argentina.
Danielian S, El-Hakeh J, Basílico G, Oleastro M, Rosenzweig S, Feldman G, Berozdnik L, Galicchio M, Gallardo A, Giraudi V, Liberatore D, Rivas EM, Zelazko M. Danielian S, et al. Hum Mutat. 2003 Apr;21(4):451. doi: 10.1002/humu.9131. Hum Mutat. 2003. PMID: 12655572
A missense mutation in the extracellular domain of Fas: the most common change in Argentinean patients with autoimmune lymphoproliferative syndrome represents a founder effect.
Simesen de Bielke MG, Yancoski J, Rocco C, Pérez LE, Cantisano C, Pérez N, Oleastro M, Danielian S. Simesen de Bielke MG, et al. Among authors: danielian s. J Clin Immunol. 2012 Dec;32(6):1197-203. doi: 10.1007/s10875-012-9731-y. Epub 2012 Jul 3. J Clin Immunol. 2012. PMID: 22752343
76 results