Novel mutations c.1015G>A and c.211G>C in GARS gene identified in Chinese DHMN patients

被引:0
|
作者
Zhang, Ruxu [1 ]
Xie, Yongzhi [1 ]
Tang, Beisha [1 ]
Zuchner, Stephan [1 ]
机构
[1] Univ Miami, Miami, FL USA
基金
中国国家自然科学基金;
关键词
distal hereditary motor neuropathy; GARS; mutation; phenotype;
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
478
引用
收藏
页码:141 / 141
页数:1
相关论文
共 50 条
  • [41] The interleukin-6 gene-174G>C and-572G>C promoter polymorphisms are related to cerebral aneurysms
    Morgan, L.
    Cooper, J.
    Montgomery, H.
    Kitchen, N.
    Humphries, S. E.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2006, 77 (08): : 915 - 917
  • [42] Interleukin-6 gene -174G>C and -636G>C promoter polymorphisms and prostate cancer risk
    Magalhaes, J. F.
    Cortinhas, A. J.
    Albuquerque, C. M.
    Baptista, C. S.
    Ribeiro, R.
    Viegas, Carlos
    Matos, Augusto
    Machado, Joao
    Pires, Maria A.
    Guedes-Pinto, Henrique
    Martins-Bessa, A.
    Leitao, J. C.
    Bastos, E.
    MOLECULAR BIOLOGY REPORTS, 2013, 40 (01) : 449 - 455
  • [43] Evaluation of the frequency of RETN c.62G>A and RETN c.-180C>G polymorphisms in the resistin coding gene in girls with anorexia nervosa
    Ziora-Jakutowicz, Karolina N.
    Zimowski, Janusz
    Ziora, Katarzyna
    Bednarska-Makaruk, Malgorzata
    Swietochowska, Elzbieta
    Gorczyca, Piotr
    Szczepanska, Maria
    Machura, Edyta
    Stojewska, Malgorzata
    Golab-Jeneral, Katarzyna
    Blaska, Malgorzata
    Mizgala-Izworska, Elzbieta
    Kukla, Michal
    Rybakowski, Filip
    ENDOKRYNOLOGIA POLSKA, 2021, 72 (05) : 529 - 538
  • [44] Leptin receptor gene polymorphisms c.668A>G and c.1968G>C in Sudanese women with preeclampsia: a case-control study
    Saad, Amira
    Adam, Ishag
    Elzaki, Salah Eldin G.
    Awooda, Hiba A.
    Hamdan, Hamdan Z.
    BMC MEDICAL GENETICS, 2020, 21 (01)
  • [45] Reevaluating the pathogenicity of the variations c.439 G>A and c.2132 C>T in the PLA2G6 gene
    Allouche, Stephane
    JOURNAL OF GENETICS, 2020, 99 (01)
  • [46] C-reactive Protein-717A>G and-286C>T>A Gene Polymorphism and Ischemic Stroke
    Liu, Yan
    Geng, Pei-Liang
    Yan, Fu-Qin
    Chen, Tong
    Wang, Wei
    Tang, Xu-Dong
    Zheng, Jing-Chen
    Wu, Wei-Ping
    Wang, Zhen-Fu
    CHINESE MEDICAL JOURNAL, 2015, 128 (12) : 1666 - 1670
  • [47] The transcobalamin codon 259 polymorphism should be designated 776C>G, not 775G>C
    Zetterberg, H
    Palmér, M
    Boreström, C
    Rymo, L
    Blennow, K
    BLOOD, 2003, 101 (09) : 3749 - 3750
  • [48] The RAD51C exonic splice-site mutations c.404G > C and c.404G > T are associated with familial breast and ovarian cancer
    Neidhardt, Guido
    Becker, Alexandra
    Hauke, Jan
    Horvath, Judit
    Markov, Nadja Bogdanova
    Heilmann-Heimbach, Stefanie
    Hellebrand, Heide
    Thiele, Holger
    Altmueller, Janine
    Nuernberg, Peter
    Meindl, Alfons
    Rhiem, Kerstin
    Bluemcke, Britta
    Wappenschmidt, Barbara
    Schmutzler, Rita K.
    Hahnen, Eric
    EUROPEAN JOURNAL OF CANCER PREVENTION, 2017, 26 (02) : 165 - 169
  • [49] A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family
    Wu, Mei-Chen
    Wu, Jer-Yuarn
    Lee, Cheng-Chun
    Tsai, Chang-Hai
    Tsai, Fuu-Jen
    HUMAN MUTATION, 2001, 17 (01) : 81 - 82
  • [50] Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family
    Godbole, Koumudi G.
    Ramachandran, Angalena
    Karkamkar, Ashwini S.
    Dalal, Ashwin B.
    HEMOGLOBIN, 2018, 42 (02) : 141 - 142