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首页> Genetics in medicine : official journal of the American College of Medical Genetics> Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.

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作者： Hassan,Abolhassani ^[1] ; Asghar,Aghamohammadi ^[2] ; Mingyan,Fang ^[2] ; Nima,Rezaei ^[1] ; Chongyi,Jiang ^[3] ; Xiao,Liu ^[4] ; Qiang,Pan-Hammarström ^[2] ; Lennart,Hammarström ^[3]

作者单位： Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. ^[1] Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. ^[2] BGI-Shenzhen, Shenzhen, 518083, China. ^[3] China National GeneBank, BGI-Shenzhen, Shenzhen, 518120, China. ^[4] Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, Stockholm, Sweden. lennart.hammarstrom@ki.se. ^[5] BGI-Shenzhen, Shenzhen, 518083, China. lennart.hammarstrom@ki.se. ^[6] China National GeneBank, BGI-Shenzhen, Shenzhen, 518120, China. lennart.hammarstrom@ki.se. ^[7]

关键词 Dysgammaglobulinemia Exome sequencing Genetic diagnosis Primary antibody deficiency

主题词青少年(Adolescent);成年人(Adult);发病年龄(Age of Onset);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);基因组学(Genomics);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);免疫系统疾病(Immune System Diseases);男(雄)性(Male);突变(Mutation);表型(Phenotype);序列分析, DNA(Sequence Analysis, DNA);青年人(Young Adult)

DOI 10.1038/s41436-018-0012-x

PMID 29921932

发布时间 2022-12-07

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Genetics in medicine : official journal of the American College of Medical Genetics

Genetics in medicine

2019年21卷1期

243-251页

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Genetics in medicine : official journal of the American College of Medical Genetics

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Genetics in medicine

2019年21卷1期

243-251页

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