A novel mutation in C5 deficiency identified by exome sequencing

被引:0
|
作者
Schejbel, L. [1 ]
Lappegaard, K. T. [1 ]
Mollnes, T. E. [1 ]
Garred, P. [1 ]
机构
[1] Univ Copenhagen, Rigshosp, Mol Med Lab, Dept Clin Immunol,Sect 7631, DK-2100 Copenhagen O, Denmark
关键词
D O I
10.1016/j.molimm.2013.05.158
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:296 / 296
页数:1
相关论文
共 50 条
  • [31] LEINERS DISEASE AND C5 DEFICIENCY
    AMMANN, AJ
    JOURNAL OF PEDIATRICS, 1972, 81 (06): : 1221 - +
  • [32] A novel homozygous PSAP mutation identified by whole exome sequencing in a consanguineous family with metachromatic leukodystrophy: a case report
    Li, Xueyi
    Kuang, Xiaoni
    Huang, Guangwen
    Liu, Zhenyu
    Yan, Shuyuan
    JOURNAL OF INTERNATIONAL MEDICAL RESEARCH, 2024, 52 (11)
  • [33] Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome
    Ghaedi, Hamid
    Ramsheh, Samira Molaei
    Omidvar, Maryam Erfanian
    Labbaf, Afsaneh
    Alehabib, Elham
    Akbari, Sanaz
    Pourfatemi, Fatemeh
    Darvish, Hossein
    GENES & DISEASES, 2020, 7 (04) : 614 - 619
  • [34] Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome
    Ke-Liang Chen
    He Wang
    Gui-Xian Zhao
    Lei Wei
    Yu-Yuan Huang
    Shi-Dong Chen
    Jian Sun
    Qiang Dong
    Mei Cui
    Jin-Tai Yu
    Journal of Molecular Neuroscience, 2022, 72 : 691 - 694
  • [35] A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly
    You, Guolin
    Cai, Haiqing
    Jiang, Limin
    Zheng, Zhaojing
    Wang, Bo
    Fu, Qihua
    Wang, Jing
    CLINICA CHIMICA ACTA, 2016, 459 : 73 - 78
  • [36] Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome
    Chen, Ke-Liang
    Wang, He
    Zhao, Gui-Xian
    Wei, Lei
    Huang, Yu-Yuan
    Chen, Shi-Dong
    Sun, Jian
    Dong, Qiang
    Cui, Mei
    Yu, Jin-Tai
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2022, 72 (04) : 691 - 694
  • [37] Exome sequencing identified a novel SMAD2 mutation in a Chinese family with early onset aortic aneurysms
    Zhang, Wenwen
    Zeng, Qingfu
    Xu, Yingqi
    Ying, Houqun
    Zhou, Wei
    Cao, Qing
    Zhou, Weimin
    CLINICA CHIMICA ACTA, 2017, 468 : 211 - 214
  • [38] Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD
    Jin, Jing
    Wu, Keke
    Liu, Zhenwei
    Chen, Xiaomin
    Jiang, Shan
    Wang, Zhen
    Li, Weixing
    FRONTIERS IN GENETICS, 2019, 10
  • [39] Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
    Ling, Chao
    Sui, Ruifang
    Yao, Fengxia
    Wu, Zhihong
    Zhang, Xue
    Zhang, Shuyang
    BMC MEDICAL GENETICS, 2019, 20
  • [40] Whole-exome sequencing identified a homozygous novel RAG1 mutation in a child with omenn syndrome
    Wang, Wendi
    Wang, Jian
    Wang, Jingjing
    Liu, Jingting
    Pei, Jianying
    Li, Wanyi
    Wang, Yanxia
    Banerjee, Santasree
    Xu, Ruifeng
    Meng, Zhaoyan
    Yi, Bin
    ALLERGOLOGIA ET IMMUNOPATHOLOGIA, 2022, 50 (06) : 32 - 46