Variants detection in regions of segmental duplication facilitates molecular diagnosis for IEI such as chronic granulomatous disease caused by NCF1 mutations

被引：0
|
作者：
Yang, Xingtian [1 ]
Leung, Daniel [1 ]
She, Chun Hing [1 ]
Lau, Yu Lung [2 ]
Yang, Wanling [1 ]
机构：
[1] Univ Hong Kong, Dept Paediat & Adolescent Med, Hong Kong, Peoples R China
[2] Univ Hong Kong, Dept Paediat & Adolescent Med, Paediat, Hong Kong, Peoples R China
来源：
CLINICAL IMMUNOLOGY | 2023年 / 250卷
关键词：
Segmental Duplications; Next-generation sequencing; Chronic granulomatous disease;
D O I：
10.1016/j.clim.2023.109421
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
74
引用
收藏
页码：35 / 35
页数：1
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