Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

doi:10.12998/wjcc.v7.i12.1522

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Jun 26, 2019 (publication date) through Nov 4, 2024

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World Journal of Clinical Cases

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2307-8960

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Clin Cases. Jun 26, 2019; 7(12): 1522-1528
Published online Jun 26, 2019. doi: 10.12998/wjcc.v7.i12.1522

Table 3 Mutation in exon 22 of SLC12A3 gene

Exon	Mutation	Pmid
exon22	Glv876Ser	17654016
exon22	Leu849His	17873326, 20229814
exon22	Arg852His	17873326, 20229814
exon22	Arg861Cys	27872838
exon22	Arg871His	21051746
exon22	Leu859Pro	21753071
exon22	Arg861Cys	21753071
exon22	Arg861His	Present study

Citation: Wang CL. Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report. World J Clin Cases 2019; 7(12): 1522-1528
URL: https://www.wjgnet.com/2307-8960/full/v7/i12/1522.htm
DOI: https://dx.doi.org/10.12998/wjcc.v7.i12.1522