换一批
换一批Severe combined immunodeficiency (SCID) presenting in childhood, with agammaglobulinemia, associated with novel compound heterozygous mutations in DCLRE1C.
第一作者：
Mikael,Sundin
第一单位：
The Pediatric Hematology, Immunology and HCT Section, Astrid Lindgren Children's Hospital, Stockholm, Sweden.
作者：
主题词
丙种球蛋白缺乏血症(Agammaglobulinemia);儿童, 学龄前(Child, Preschool);DNA结合蛋白质类(DNA-Binding Proteins);内切核酸酶类(Endonucleases);女(雌)性(Female);杂合子(Heterozygote);人类(Humans);突变(Mutation);肺炎, 肺囊虫性(Pneumonia, Pneumocystis);重症联合免疫缺陷(Severe Combined Immunodeficiency)
DOI
10.1016/j.clim.2018.12.019
PMID
30630113
发布时间
2019-12-31
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