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
  • [41] Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus
    Zhang, Weizhi
    Li, Dongping
    Wei, Shijie
    Guo, Ting
    Wang, Jian
    Luo, Hong
    Yang, Yifeng
    Tan, Zhiping
    JOURNAL OF HUMAN GENETICS, 2019, 64 (03) : 249 - 255
  • [42] Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus
    Weizhi Zhang
    Dongping Li
    Shijie Wei
    Ting Guo
    Jian Wang
    Hong Luo
    Yifeng Yang
    Zhiping Tan
    Journal of Human Genetics, 2019, 64 : 249 - 252
  • [43] Whole-exome sequencing identify mutations in DNAH5 in a Chinese Han patient with primary ciliary dyskinesia: a case report
    Xia, Peiyi
    Chen, Tiandong
    Hu, Chenfan
    Wang, Tianen
    Chen, Shuwan
    Zhang, Yufeng
    Chen, Hairui
    Huang, Qingjie
    Hu, Ruimin
    Dong, Xiubing
    Chen, Renyin
    INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2018, 11 (08): : 8757 - 8761
  • [44] Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
    Shen, Na
    Wang, Ting
    Li, Delei
    Liu, Aiguo
    Lu, Yanjun
    BMC MEDICAL GENETICS, 2019, 20
  • [45] Identification of a mutL-homolog 1 mutation via whole-exome sequencing in a Chinese family with Gardner syndrome
    Lv, Zilan
    Wang, Chuan
    Wu, Lixiang
    Guo, Bianqin
    Zhang, Darong
    Hang, Yang
    Huang, Shengxing
    Ou, Minglin
    MOLECULAR MEDICINE REPORTS, 2018, 18 (01) : 987 - 992
  • [46] Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene
    Bouillet, B.
    Crevisy, E.
    Baillot-Rudoni, S.
    Gallegarine, D.
    Jouan, T.
    Duffourd, Y.
    Petit, J. M.
    Verges, B.
    Callier, P.
    DIABETES & METABOLISM, 2020, 46 (05) : 400 - 402
  • [47] Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
    Martine Tetreault
    Somayyeh Fahiminiya
    Hana Antonicka
    Grant A. Mitchell
    Michael T. Geraghty
    Matthew Lines
    Kym M. Boycott
    Eric A. Shoubridge
    John J. Mitchell
    Jacques L. Michaud
    Jacek Majewski
    Human Genetics, 2015, 134 : 981 - 991
  • [48] Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
    Tetreault, Martine
    Fahiminiya, Somayyeh
    Antonicka, Hana
    Mitchell, Grant A.
    Geraghty, Michael T.
    Lines, Matthew
    Boycott, Kym M.
    Shoubridge, Eric A.
    Mitchell, John J.
    Michaud, Jacques L.
    Majewski, Jacek
    HUMAN GENETICS, 2015, 134 (09) : 981 - 991
  • [49] Whole-exome sequencing identifies a novel LRAT mutation underlying retinitis punctata albescens in a consanguineous Pakistani family
    Jelani, Musharraf
    Jeon, Miyeon
    Rahman, Obaid Ur
    Rahim, Fazal
    Naeem, Muhammad
    Kang, Changsoo
    GENES & GENOMICS, 2015, 37 (10) : 845 - 849
  • [50] Whole-exome sequencing identifies a novel LRAT mutation underlying retinitis punctata albescens in a consanguineous Pakistani family
    Musharraf Jelani
    Miyeon Jeon
    Obaid Ur Rahman
    Fazal Rahim
    Muhammad Naeem
    Changsoo Kang
    Genes & Genomics, 2015, 37 : 845 - 849
12345