Late Breaking Abstract - Whole exome sequencing and runs of homozygosity Identifies a Novel Mutation of DYX1C1 in Primary Ciliary Dyskinesia From a consanguineous Chinese Family

被引:0
|
作者
Guo, Ting
Luo, Hong
机构
关键词
D O I
10.1183/1393003.congress-2017.PA2804
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
PA2804
引用
收藏
页数:1
相关论文
共 44 条
  • [1] WHOLE-EXOME SEQUENCING AND RUNS OF HOMOZYGOSITY IDENTIFIES A NOVEL MUTATION OF DYX1C1 IN PRIMARY CILIARY DYSKINESIA FROM AN INBRED CHINESE FAMILY
    Guo, Ting
    Luo, Hong
    RESPIROLOGY, 2017, 22 : 171 - 171
  • [2] Whole-Exome Sequencing and Runs of Homozygosity Identifies a Novel Mutation of DRC1 in Primary Ciliary Dyskinesia with Infertility from an Inbred Chinese Family
    Guo, T.
    Luo, H.
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2020, 201
  • [3] Whole-Exome Sequencing Identifies a Novel Mutation of DNAI1 in Primary Ciliary Dyskinesia From a Chinese Family
    Guo, Ting
    Luo, Hong
    CHEST, 2016, 149 (04) : 248A - 248A
  • [4] An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families
    Ting Guo
    Zhi-Ping Tan
    Hua-Mei Chen
    Dong-yuan Zheng
    Lv liu
    Xin-Gang Huang
    Ping Chen
    Hong Luo
    Yi-Feng Yang
    Scientific Reports, 7
  • [5] An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families
    Guo, Ting
    Tan, Zhi-Ping
    Chen, Hua-Mei
    Zheng, Dong-yuan
    Liu, Lv
    Huang, Xin-Gang
    Chen, Ping
    Luo, Hong
    Yang, Yi-Feng
    SCIENTIFIC REPORTS, 2017, 7
  • [6] Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia
    Bizhen Zhu
    Jinzhun Wu
    Guobing Chen
    Ling Chen
    Yonghua Yao
    Journal of Molecular Neuroscience, 2020, 70 : 1237 - 1243
  • [7] Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia
    Zhu, Bizhen
    Wu, Jinzhun
    Chen, Guobing
    Chen, Ling
    Yao, Yonghua
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2020, 70 (08) : 1237 - 1243
  • [8] Homozygosity mapping and whole exome sequencing reveal a novel ERCC8 mutation in a Chinese consanguineous family with unique cerebellar ataxia
    Zhang, Danyan
    Dai, Limeng
    Zhou, Zhenhua
    Hu, Jun
    Bai, Yun
    Guo, Hong
    CLINICA CHIMICA ACTA, 2019, 494 : 64 - 70
  • [9] Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of LRRC6 in a Chinese Primary Ciliary Dyskinesia Patient
    Liu, Lv
    Luo, Hong
    BIOMED RESEARCH INTERNATIONAL, 2018, 2018
  • [10] WHOLE EXOME SEQUENCING OF A CONSANGUINEOUS TURKISH FAMILY IDENTIFIES A MUTATION IN X-LINKED FHL1 IN BROTHERS WITH MALE FACTOR INFERTILITY
    Clavijo, Raul
    Cohen, Samuel
    Griswold, Anthony
    Bakircioglu, Emre
    Ramasamy, Ranjith
    JOURNAL OF UROLOGY, 2017, 197 (04): : E189 - E189