Browsing Genetic Medicne by Author "Pilkinton, Mark"

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    • IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells 
      Newman, John H.; Shaver, Aaron; Sheehan, Jonathan H.; Mallal, Simon; Bastarache, Lisa; Riebau, Derek; Pilkinton, Mark; Smith, Scott A.; McDonnell, Wyatt J.; Capra, John A.; Meiler, Jens; Cogan, Joy; Hamid, Rizwan; Phillips, John A., III (Molecular Genetrics & Genome Medicine, 2019-06)
      BackgroundFamily screening of a 48-year-old male with recently diagnosed IgG4-related disease (IgG4-RD) revealed unanticipated elevations in plasma IgG4 in his two healthy teenaged sons. MethodsWe performed gene sequencing, ...