Literature DB >> 18760270

A novel mutation of SLC22A12 gene causing primary renal hypouricemia in a patient with metabolic syndrome.

Ching-Wan Lam, Alice P S Kong, Teresa K C Tsui, Risa Ozaki, Ho-Ming Chan, Sui-Fan Tong, Tak-Shing Siu, Sidney Tam, Juliana C N Chan.   

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Year:  2008        PMID： 18760270     DOI： 10.1016/j.cca.2008.08.005

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  4 in total

1.  Association of an intronic SNP of SLC2A9 gene with serum uric acid levels in the Chinese male Han population by high-resolution melting method.

Authors:  Ming Guan; Danqiu Zhou; Weizhe Ma; Yuming Chen; Jiong Zhang; Hejian Zou
Journal:  Clin Rheumatol       Date:  2010-10-23       Impact factor: 2.980

2.  Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis.

Authors:  Blanka Stiburkova; Ivan Sebesta; Kimiyoshi Ichida; Makiko Nakamura; Helena Hulkova; Vladimir Krylov; Lenka Kryspinova; Helena Jahnova
Journal:  Eur J Hum Genet       Date:  2013-02-06       Impact factor: 4.246

3.  Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Authors:  Zhaowei Zhou; Lidan Ma; Juan Zhou; Zhijian Song; Jinmai Zhang; Ke Wang; Boyu Chen; Dun Pan; Zhiqiang Li; Changgui Li; Yongyong Shi
Journal:  BMC Med Genet       Date:  2018-08-10       Impact factor: 2.103

4.  Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.

Authors:  Zhaowei Zhou; Ke Wang; Juan Zhou; Can Wang; Xinde Li; Lingling Cui; Lin Han; Zhen Liu; Wei Ren; Xuefeng Wang; Keke Zhang; Zhiqiang Li; Dun Pan; Changgui Li; Yongyong Shi
Journal:  Mol Genet Genomic Med       Date:  2019-05-26       Impact factor: 2.183
  4 in total

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