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首页> Immunology letters> Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation.

Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation.

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作者： Clara,Franco-Jarava ^[1] ; Roger,Colobran ^[2] ; Jaume,Mestre-Torres ^[3] ; Victor,Vargas ^[4] ; Ricardo,Pujol-Borrell ^[1] ; Manuel,Hernández-González ^[1]

作者单位： Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Barcelona, Spain; Department of Cell Biology, Physiology and Immunology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain. ^[1] Immunology Division, Hospital Universitari Vall d'Hebron (HUVH), Vall d'Hebron Research Institute (VHIR), Barcelona, Spain; Department of Cell Biology, Physiology and Immunology, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain. Electronic address: roger.colobran@vhir.org. ^[2] Internal Medicine Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain. ^[3] Liver Unit, Internal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, CIBEREHD, Barcelona, Spain. ^[4]

关键词 C3 Complement deficiency Encapsulated bacterial infections Factor I Primary immunodeficiency Sepsis Serum protein electrophoresis

主题词补体C3(Complement C3);补体C4(Complement C4);补体因子Ⅰ(Complement Factor I);DNA突变分析(DNA Mutational Analysis);电泳, 毛细管(Electrophoresis, Capillary);遗传性疾病, 先天性(Genetic Diseases, Inborn);纯合子(Homozygote);人类(Humans);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);系谱(Pedigree)

DOI 10.1016/j.imlet.2016.04.011

PMID 27091480

发布时间 2019-12-10

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Immunology letters

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