Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene.
第一作者:
Glynis,Frans
第一单位:
Department of Microbiology and Immunology, Experimental Laboratory Immunology, KU Leuven, Leuven, Belgium.
作者:
医学主题词
细菌感染(Bacterial Infections);碱基序列(Base Sequence);染色体图(Chromosome Mapping);诊断, 鉴别(Diagnosis, Differential);女(雌)性(Female);基因座(Genetic Loci);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);I-κB激酶(I-kappa B Kinase);免疫缺陷综合征(Immunologic Deficiency Syndromes);白细胞介素1受体相关激酶类(Interleukin-1 Receptor-Associated Kinases);男(雄)性(Male);髓样分化因子88(Myeloid Differentiation Factor 88);聚合酶链反应(Polymerase Chain Reaction);多态性, 单核苷酸(Polymorphism, Single Nucleotide);拟基因(Pseudogenes);敏感性与特异性(Sensitivity and Specificity);序列分析, DNA(Sequence Analysis, DNA);结构同源性, 蛋白质(Structural Homology, Protein)
DOI
10.1016/j.jmoldx.2017.10.005
PMID
29269280
发布时间
2019-10-22
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