SIX NOVEL SLC12A3 MUTATIONS IN CHINESE PATIENTS WITH GITELMAN SYNDROME

被引:0
|
作者
Chen, Chen [1 ]
Jiang, Lanping [1 ]
Chen, Limeng [1 ]
机构
[1] Pumch, Beijing, Peoples R China
关键词
D O I
暂无
中图分类号
R3 [基础医学]; R4 [临床医学];
学科分类号
1001 ; 1002 ; 100602 ;
摘要
引用
收藏
页码:328 / 328
页数:1
相关论文
共 50 条
  • [41] A NOVEL MISSENSE MUTATION IN SLC12A3 GENE IN TWO SIBLINGS WITH GITELMAN SYNDROME
    Tayfur, Asli Celebi
    Meral, Zehra
    Yoldas, Meyri Arzu
    PEDIATRIC NEPHROLOGY, 2022, 37 (11) : 2943 - 2944
  • [42] Correction to: Digenic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome
    Yuanmei Kong
    Ke Xu
    Ke Yuan
    Jianfang Zhu
    Weiyue Gu
    Li Liang
    Chunlin Wang
    BMC Pediatrics, 19
  • [43] Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes
    Bingzi Dong
    Ying Chen
    Xinying Liu
    Yangang Wang
    Fang Wang
    Yuhang Zhao
    Xiaofang Sun
    Wenjuan Zhao
    BMC Nephrology, 21
  • [44] Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes
    Dong, Bingzi
    Chen, Ying
    Liu, Xinying
    Wang, Yangang
    Wang, Fang
    Zhao, Yuhang
    Sun, Xiaofang
    Zhao, Wenjuan
    BMC NEPHROLOGY, 2020, 21 (01)
  • [45] Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome
    Zheng, Xinyi
    Shang, Shunlai
    Cai, Guangyan
    Chen, Xiangmei
    Li, Qinggang
    CLINICAL NEPHROLOGY, 2021, 96 (03) : 165 - 174
  • [46] Mutational analysis of SLC12A3 gene in 43 patients with Gitelman's syndrome
    Tsutaya, S.
    Yasujima, M.
    JOURNAL OF HYPERTENSION, 2008, 26 : S7 - S7
  • [47] Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature
    Melis Akpinar Gozetici
    Fadime Ersoy Dursun
    Hasan Dursun
    Egyptian Journal of Medical Human Genetics, 23
  • [48] Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report
    Wang, Cheng-Lin
    WORLD JOURNAL OF CLINICAL CASES, 2019, 7 (12) : 1522 - 1528
  • [49] Exonic Mutations in the SLC12A3 Gene Cause Exon Skipping and Premature Termination in Gitelman Syndrome
    Takeuchi, Yoichi
    Mishima, Eikan
    Shima, Hisato
    Akiyama, Yasutoshi
    Suzuki, Chitose
    Suzuki, Takehiro
    Kobayashi, Takayasu
    Suzuki, Yoichi
    Nakayama, Tomohiro
    Takeshima, Yasuhiro
    Vazquez, Norma
    Ito, Sadayoshi
    Gamba, Gerardo
    Abe, Takaaki
    JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2015, 26 (02): : 271 - 279
  • [50] Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature
    Akpinar Gozetici, Melis
    Ersoy Dursun, Fadime
    Dursun, Hasan
    EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2022, 23 (01)