WHOLE-EXOME SEQUENCING AND RUNS OF HOMOZYGOSITY IDENTIFIES A NOVEL MUTATION OF DYX1C1 IN PRIMARY CILIARY DYSKINESIA FROM AN INBRED CHINESE FAMILY

被引：0
|
作者：
Guo, Ting [1 ,2 ]
Luo, Hong [1 ,2 ]
机构：
[1] Cent S Univ, Xiangya Hosp 2, Dept Resp Med, Changsha, Hunan, Peoples R China
[2] Cent S Univ, Res Unit Resp Dis, Changsha, Hunan, Peoples R China
来源：
RESPIROLOGY | 2017年 / 22卷
关键词：
D O I：
暂无
中图分类号：
R56 [呼吸系及胸部疾病];
学科分类号：
摘要：
AP215
引用
收藏
页码：171 / 171
页数：1
相关论文
共 50 条
  • [21] Whole-Exome Sequencing Identifies Novel Heterozygous Mutation in RAF1 in Family With Neonatal Testicular Torsion REPLY
    Kohn, Taylor P.
    Lopategui, Diana M.
    Arora, Himanshu
    Griswold, Anthony J.
    Ramasamy, Ranjith
    UROLOGY, 2019, 129 : 67 - 67
  • [22] Letter to Editor: Whole-exome Sequencing Identified a Novel Frameshift Mutation of Neurofibromin 1 in a Chinese Family with Neurofibromatosis Type 1
    Liu, Lv
    Qin, Jieli
    Luo, Hong
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2018, 48 (06): : 808 - 809
  • [23] Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS
    Liu, Qing
    Shu, Shi
    Wang, Rong Rong
    Liu, Fang
    Cui, Bo
    Guo, Xia Nan
    Lu, Chao Xia
    Li, Xiao Guang
    Liu, Ming Sheng
    Peng, Bin
    Cui, Li-Ying
    Zhang, Xue
    NEUROLOGY, 2016, 87 (17) : 1763 - 1769
  • [24] Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing
    Qin, Y.
    Liu, F.
    Yu, S.
    Yang, L.
    Gao, M.
    Tang, Z.
    Guo, A. Y.
    Zhang, M.
    Li, P.
    Liu, M.
    EYE, 2017, 31 (05) : 815 - 817
  • [25] Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing
    Y Qin
    F Liu
    S Yu
    L Yang
    M Gao
    Z Tang
    A Y Guo
    M Zhang
    P Li
    M Liu
    Eye, 2017, 31 : 815 - 817
  • [26] Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy
    Zhang, Mingqiu
    Chen, Jia
    Si, Dayong
    Zheng, Yu
    Jiao, Haixu
    Feng, Zhaohui
    Hu, Zhengmao
    Duan, Ranhui
    BMC MEDICAL GENETICS, 2014, 15
  • [27] Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia
    Kano, Gen
    Tsujii, Hisashi
    Takeuchi, Kazuhiko
    Nakatani, Kaname
    Ikejiri, Makoto
    Ogawa, Satoru
    Kubo, Hisami
    Nagao, Mizuho
    Fujisawa, Takao
    MOLECULAR MEDICINE REPORTS, 2016, 14 (06) : 5077 - 5083
  • [28] WHOLE-EXOME SEQUENCING IDENTIFIES NOVEL HETEROZYGOUS MUTATION IN RAF1 IN FAMILY WITH CRYPTORCHIDISM AND NEONATAL TESTICULAR TORSION.
    Kohn, T. P.
    Lopategui, D. M.
    Griswold, A. J.
    Ramasamy, R.
    FERTILITY AND STERILITY, 2017, 108 (03) : E315 - E315
  • [29] Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
    Lin, Zhongdong
    Liu, Zhenwei
    Li, Xiucui
    Li, Feng
    Hu, Ying
    Chen, Bingyu
    Wang, Zhen
    Liu, Yong
    SCIENTIFIC REPORTS, 2017, 7
  • [30] Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies
    Zhongdong Lin
    Zhenwei Liu
    Xiucui Li
    Feng Li
    Ying Hu
    Bingyu Chen
    Zhen Wang
    Yong Liu
    Scientific Reports, 7
12345