摘要
非同源末端连接(nonhomologous DNA end joining,NHEJ)是人和哺乳动物细胞DNA双链断裂(DSBs)修复的主要通路,如该通路蛋白因子缺陷使DNA损伤不能得到及时修复,将导致VDJ重组障碍和(或)免疫球蛋白类别转换重组缺陷,致联合免疫缺陷、染色体不稳定、细胞死亡及肿瘤等疾病发生。
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2015年第12期962-966,共5页
Chinese Journal of Pediatrics
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二级引证文献4
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1张潇潇,陆敏,顾浩翔,吴蓓蓉.一例因基因突变致LIG4综合征病例的临床特点及分析[J].基础医学与临床,2020,40(6):825-830. 被引量:2
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2薛仁杰,田曼,赵德育,包玉玲,顾海燕,王娅萍,王筠.DNA连接酶4缺乏症致反复肺炎1例报告[J].中国实用儿科杂志,2020,35(6):490-492.
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3孟庆杰,赵培伟,邬欢,向赟.LIG4综合征患者的临床特点及遗传学分析[J].中华检验医学杂志,2023,46(11):1201-1204.
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