Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia.

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作者： Christoph B,Geier ^[1] ; Alexander,Piller ^[1] ; Martha M,Eibl ^[2] ; Peter,Ciznar ^[3] ; Denisa,Ilencikova ^[4] ; Hermann M,Wolf ^[5]

作者单位： Immunology Outpatient Clinic, Vienna, Austria. ^[1] Immunology Outpatient Clinic, Vienna, Austria; Biomedizinische Forschungs GmbH, Vienna, Austria. ^[2] Department of Pediatrics, Faculty of Medicine Comenius University and Children's University Hospital, Bratislava, Slovakia. ^[3] Department of Pediatrics, Faculty of Medicine Comenius University and Children's University Hospital, Bratislava, Slovakia; Zentrum Medizinische Genetik, Kepler Universitätsklinikum, Linz, Austria. ^[4] Immunology Outpatient Clinic, Vienna, Austria; Sigmund Freud Private University - Medical School, Vienna, Austria. Electronic address: hermann.wolf@itk.at. ^[5]

关键词 14q32.33 Agammaglobulinemia B-cell defect Microdeletion Primary immunodeficiency

主题词丙种球蛋白缺乏血症(Agammaglobulinemia);染色体缺失(Chromosome Deletion);染色体, 人, 14对(Chromosomes, Human, Pair 14);人类(Humans);免疫球蛋白重链(Immunoglobulin Heavy Chains);男(雄)性(Male);青年人(Young Adult)

DOI 10.1016/j.clim.2017.07.003

PMID 28705765

发布时间 2018-02-06

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