A Novel GNAL Mutation Identified by Whole Exome Sequencing is Associated with Familial Generalized Chorea

被引:0
|
作者
Parnes, M. S.
Stocco, A. J.
机构
关键词
Case studies/case series; Epilepsy and other paroxysmal disorders; Genetics;
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
119
引用
收藏
页码:S225 / S226
页数:2
相关论文
共 50 条
  • [31] Novel mutations identified by whole-exome sequencing in acral melanoma
    Lim, Youngkyoung
    Yoon, Dokyoung
    Lee, Dong-Youn
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2020, 83 (06) : 1792 - 1794
  • [32] Whole exome sequencing identified six novel genes for depressive symptoms
    Li, Ze-Yu
    Fei, Chen-Jie
    Yin, Rui-Ying
    Kang, Ju-Jiao
    Ma, Qing
    He, Xiao-Yu
    Wu, Xin-Rui
    Zhao, Yu-Jie
    Zhang, Wei
    Liu, Wei-Shi
    Wu, Bang-Sheng
    Yang, Liu
    Zhu, Ying
    Feng, Jian-Feng
    Yu, Jin-Tai
    Cheng, Wei
    MOLECULAR PSYCHIATRY, 2024,
  • [33] A novel mutation in C5 deficiency identified by exome sequencing
    Schejbel, L.
    Lappegaard, K. T.
    Mollnes, T. E.
    Garred, P.
    MOLECULAR IMMUNOLOGY, 2013, 56 (03) : 296 - 296
  • [34] WHOLE EXOME SEQUENCING IDENTIFIED CANDIDATE GENE MUTATIONS IN A PEDIGREE OF FAMILIAL MYELOPROLIFERATIVE NEOPLASM
    Cher, Chae Yin
    Lam, Nelson Ka
    Lam, Stephen Sze Yuen
    He, Bai-Liang
    Ying, Dingge
    Chung, Brian Hon-Yin
    Au, Chun Hung
    Chan, Tsun Leung
    Ma, Edmond Shiu Kwan
    Liang, Raymond Hin Suen
    Kwong, Yok Lam
    Leung, Anskar Yu Hung
    EXPERIMENTAL HEMATOLOGY, 2017, 53 : S116 - S116
  • [35] Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing
    Ren, Ming-Bao
    Chai, Xiao-Rui
    Li, Lin
    Wang, Xin
    Yin, Chenghong
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (03):
  • [36] Genetic variants in familial abdominal aortic aneurysms identified by Whole Genome and Exome sequencing
    IJpma, A.
    Heijsman, D.
    Bruggenwirth, H.
    van den Boogert, I.
    Majoor-Krakauer, D.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 257 - 258
  • [37] Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm
    Song, Yunsun
    Lee, Jong-Keuk
    Lee, Jin-Ok
    Kwon, Boseong
    Seo, Eul-Ju
    Suh, Dae Chul
    KOREAN JOURNAL OF RADIOLOGY, 2022, 23 (01) : 101 - 111
  • [38] 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)
  • [39] 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
  • [40] 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