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
  • [31] Idiopathic renal hypouricemia as a rare and easily misdiagnosed disease with mutation in SLC2A9 gene
    Shen, Hunjun
    Feng, Chunyue
    Mao, Jianhua
    Jin, Xia
    Fu, Haidong
    Wang, Xia
    Liu, Ai Min
    Du, Lizhong
    Shu, Qiang
    Gu, Weizhong
    PEDIATRIC NEPHROLOGY, 2013, 28 (08) : 1359 - 1359
  • [32] Recurrent EIARF and PRES With Severe Renal Hypouricemia by Compound Heterozygous SLC2A9 Mutation
    Shima, Yuko
    Nozu, Kandai
    Nozu, Yoshimi
    Togawa, Hiroko
    Kaito, Hiroshi
    Matsuo, Masafumi
    Iijima, Kazumoto
    Nakanishi, Koichi
    Yoshikawa, Norishige
    PEDIATRICS, 2011, 127 (06) : E1621 - E1625
  • [33] IDENTIFICATION OF A HYPOURICEMIA PATIENT WITH SLC2A9 R380W, A PATHOGENIC MUTATION FOR RENAL HYPOURICEMIA TYPE 2
    Chiba, Toshinori
    Matsuo, Hirotaka
    Nagamori, Shushi
    Nakayama, Akiyoshi
    Kawamura, Yusuke
    Shimizu, Seiko
    Sakiyama, Masayuki
    Hosoyamada, Makoto
    Kawai, Sayo
    Okada, Rieko
    Hamajima, Nobuyuki
    Kanai, Yoshikatsu
    Shinomiya, Nariyoshi
    NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS, 2014, 33 (4-6): : 261 - 265
  • [34] Additive composite ABCG2, SLC2A9 and SLC22A12 scores of high-risk alleles with alcohol use modulate gout risk
    Hung-Pin Tu
    Chia-Min Chung
    Albert Min-Shan Ko
    Su-Shin Lee
    Han-Ming Lai
    Chien-Hung Lee
    Chung-Ming Huang
    Chiu-Shong Liu
    Ying-Chin Ko
    Journal of Human Genetics, 2016, 61 : 803 - 810
  • [35] Additive composite ABCG2, SLC2A9 and SLC22A12 scores of high-risk alleles with alcohol use modulate gout risk
    Tu, Hung-Pin
    Chung, Chia-Min
    Ko, Albert Min-Shan
    Lee, Su-Shin
    Lai, Han-Ming
    Lee, Chien-Hung
    Huang, Chung-Ming
    Liu, Chiu-Shong
    Ko, Ying-Chin
    JOURNAL OF HUMAN GENETICS, 2016, 61 (09) : 803 - 810
  • [36] Prevalence of hypouricaemia and SLC22A12 mutations in healthy Korean subjects
    Lee, Joo Hoon
    Choi, Hyun Jin
    Lee, Beom Hee
    Kang, Hee Kyung
    Chin, Ho Jun
    Yoon, Hyung Jin
    Ha, Il Soo
    Kim, Suhnggwon
    Choi, Yong
    Cheong, Hae Il
    NEPHROLOGY, 2008, 13 (08) : 661 - 666
  • [37] HOMOZYGOUS SLC2A9 MUTATION CAUSING SEVERE HYPOURICEMIA AND REVERSIBLE EXERTIONAL ACUTE RENAL FAILURE
    Stylianou, Kostas G.
    Kyriazis, John
    Androvitsanea, Ariadni
    Tzanakakis, Michael
    Maragkaki, Eleftheria
    Petrakis, John
    Stratakis, Stavros
    Poulidaki, Rafaela
    Vardaki, Eleftheria
    Petra, Christina
    Statigis, Spyros
    Perakis, Kostas
    Daphnis, Eugene
    NEPHROLOGY DIALYSIS TRANSPLANTATION, 2014, 29 : 348 - 349
  • [38] Absence of SLC22A12/URAT1 Gene Mutations in Patients with Primary Gout
    Torres, Rosa J.
    De Miguel, Eugenio
    Bailen, Rebeca
    Puig, Juan G.
    JOURNAL OF RHEUMATOLOGY, 2012, 39 (09) : 1901 - 1902
  • [39] Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report
    Tsuji, Kiyokazu
    Kitamura, Mineaki
    Muta, Kumiko
    Mochizuki, Yasushi
    Mori, Takayasu
    Sohara, Eisei
    Uchida, Shinichi
    Sakai, Hideki
    Mukae, Hiroshi
    Nishino, Tomoya
    BMC NEPHROLOGY, 2020, 21 (01)
  • [40] Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report
    Kiyokazu Tsuji
    Mineaki Kitamura
    Kumiko Muta
    Yasushi Mochizuki
    Takayasu Mori
    Eisei Sohara
    Shinichi Uchida
    Hideki Sakai
    Hiroshi Mukae
    Tomoya Nishino
    BMC Nephrology, 21
12345