SLC22A12 and SLC2A9 mutations in Spanish patients with renal hypouricemia

被引：0
|
作者：
Trujillo Suarez, J. [1 ]
Gonzalez-Acosta, H. [1 ]
Martin-Gomez, M. A. [2 ]
Inigo Vanrell, M. V. [3 ]
Claverie-Martin, F. [1 ]
机构：
[1] Hosp Nuestra Senora Candelaria, Unidad Invest, Santa Cruz De Tenerife, Spain
[2] Hosp Poniente, Dept Nefrol, Almeria, Spain
[3] Hosp Son LLatzer, Serv Nefrol, Palma De Mallorca, Spain
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2018年 / 26卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
E-P03.34
引用
收藏
页码：866 / 866
页数：1
相关论文
共 50 条
  • [21] SLC2A9基因和SLC22A12基因与高尿酸血症关联性研究
    张翻弟
    张亚弟
    赵丽
    杜建财
    王云
    郭忠琴
    现代预防医学, 2017, 44 (07) : 1332 - 1336
  • [22] A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia
    Windpessl, Martin
    Ritelli, Marco
    Wallner, Manfred
    Colombi, Marina
    AMERICAN JOURNAL OF NEPHROLOGY, 2016, 43 (04) : 245 - 250
  • [23] A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
    Vidanapathirana, Dinesha Maduri
    Jayasena, Subashinie
    Jasinge, Eresha
    Stiburkova, Blanka
    BMC PEDIATRICS, 2018, 18
  • [24] Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese
    Ichida, K.
    Hosoyamada, M.
    Kamatani, N.
    Kamitsuji, S.
    Hisatome, I.
    Shibasaki, T.
    Hosoya, T.
    CLINICAL GENETICS, 2008, 74 (03) : 243 - 251
  • [25] A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia
    Dinesha Maduri Vidanapathirana
    Subashinie Jayasena
    Eresha Jasinge
    Blanka Stiburkova
    BMC Pediatrics, 18
  • [26] The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia
    Komoda, F
    Sekine, T
    Inatomi, J
    Enomoto, A
    Endou, H
    Ota, T
    Matsuyama, T
    Ogata, T
    Ikeda, M
    Awazu, M
    Muroya, K
    Kamimaki, I
    Igarashi, T
    PEDIATRIC NEPHROLOGY, 2004, 19 (07) : 728 - 733
  • [27] A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome
    Lam, Ching-Wan
    Tsui, Teresa K. C.
    Chan, Ho-Ming
    Tong, Sui-Fan
    Kong, Alice P. S.
    Czaki, Risa
    Chan, Juliana C. N.
    Siu, Tak-Shing
    Tam, Sidney
    CLINICA CHIMICA ACTA, 2008, 398 (1-2) : 157 - 158
  • [28] The W258X mutation in SLC22A12 is the predominant cause of Japanese renal hypouricemia
    Fusako Komoda
    Takashi Sekine
    Jun Inatomi
    Atsushi Enomoto
    Hitoshi Endou
    Toshiyuki Ota
    Takeshi Matsuyama
    Tsutomu Ogata
    Masahiro Ikeda
    Midori Awazu
    Koji Muroya
    Isamu Kamimaki
    Takashi Igarashi
    Pediatric Nephrology, 2004, 19 : 728 - 733
  • [29] Mutations in Glucose Transporter 9 Gene SLC2A9 Cause Renal Hypouricemia (vol 83, pg 744, 2008)
    Matsuo, Hirotaka
    Chiba, Toshinori
    Nagamori, Shushi
    Nakayama, Akiyoshi
    Domoto, Hideharu
    Phetdee, Kanokporn
    Wiriyasermkul, Pattama
    Kikuchi, Yuichi
    Oda, Takashi
    Nishiyama, Junichiro
    Nakamura, Takahiro
    Morimoto, Yuji
    Kamakura, Keiko
    Sakurai, Yutaka
    Nonoyama, Shigeaki
    Kanai, Yoshikatsu
    Shinomiya, Nariyoshi
    AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (06) : 795 - 795
  • [30] Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia
    Yoon, Jaeho
    Cachau, Raul
    David, Victor A.
    Thompson, Mary
    Jung, Wooram
    Jee, Sun-Ha
    Daar, Ira O.
    Winkler, Cheryl A.
    Cho, Sung-Kweon
    BIOMEDICINES, 2021, 9 (09)
12345