换一批Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
第一作者：
Karin R,Engelhardt
第一单位：
Department of Immunology and Molecular Pathology, Royal Free Hospital and University College London, London, UK.
作者：
医学主题词
儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);基因, 隐性(Genes, Recessive);全基因组关联研究(Genome-Wide Association Study);鸟嘌呤核苷酸交换因子类(Guanine Nucleotide Exchange Factors);单倍型(Haplotypes);纯合子(Homozygote);人类(Humans);淋巴细胞活化(Lymphocyte Activation);男(雄)性(Male);系谱(Pedigree);点突变(Point Mutation);多态性, 单核苷酸(Polymorphism, Single Nucleotide);序列缺失(Sequence Deletion);T淋巴细胞(T-Lymphocytes)
DOI
10.1016/j.jaci.2009.10.038
PMID
20004785
发布时间
2025-05-29
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