Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100.
第一作者:
Cindy Eunhee,Lee
第一单位:
Department of Immunology, John Curtin School of Medical Research, Australian National University, Canberra, ACT, Australia; Translational Research Unit, Canberra Hospital, Canberra, ACT, Australia;
作者:
医学主题词
成年人(Adult);秃发(Alopecia);B-淋巴细胞(B-Lymphocytes);CD4阳性T淋巴细胞(CD4-Positive T-Lymphocytes);树突细胞(Dendritic Cells);家庭卫生(Family Health);女(雌)性(Female);基因, 显性(Genes, Dominant);HEK293细胞(HEK293 Cells);人类(Humans);免疫缺陷综合征(Immunologic Deficiency Syndromes);分子序列数据(Molecular Sequence Data);NF-κB(NF-kappa B);p52亚基NF-κB(NF-kappa B p52 Subunit);系谱(Pedigree);磷酰化(Phosphorylation);点突变(Point Mutation);序列同源性, 氨基酸(Sequence Homology, Amino Acid);疾病严重程度指数(Severity of Illness Index)
DOI
10.1182/blood-2014-06-578542
PMID
25237204
发布时间
2021-10-21
- 浏览9
Blood
2964-72页
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