换一批
换一批IKAROS-Associated Diseases in 2020: Genotypes, Phenotypes, and Outcomes in Primary Immune Deficiency/Inborn Errors of Immunity.
第一作者：
Hye Sun,Kuehn
第一单位：
Immunology Service, Department of Laboratory Medicine, National Institutes of Health (NIH) Clinical Center, 10 Center Dr., Bldg 10, Rm. 2C410F, Bethesda, MD, 20892, USA.
作者：
主题词
等位基因(Alleles);诊断, 鉴别(Diagnosis, Differential);遗传关联研究(Genetic Association Studies);遗传性疾病, 先天性(Genetic Diseases, Inborn);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);基因型(Genotype);生殖细胞系突变(Germ-Line Mutation);单倍剂量不足(Haploinsufficiency);人类(Humans);Ikaros转录因子(Ikaros Transcription Factor);突变(Mutation);外显率(Penetrance);表型(Phenotype);预后(Prognosis);蛋白质结合(Protein Binding);蛋白质相互作用域和基序(Protein Interaction Domains and Motifs);蛋白质多聚化(Protein Multimerization)
DOI
10.1007/s10875-020-00936-x
PMID
33392855
发布时间
2022-01-14
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