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A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.

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Title: A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.
Authors: Tang W; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China., Huang X; Department of Ophthalmology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China., Liu Y; Department of Gastroenterology, The Third People's Hospital of Honghe Prefecture, Gejiu, 661000, Yunnan, China., Lv Q; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China., Li T; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China., Song Y; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China., Zhang X; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China., Chen X; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China. cxf3918@163.com., Shi Y; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China. young.stone@163.com.
Source: Journal of endocrinological investigation [J Endocrinol Invest] 2021 Mar; Vol. 44 (3), pp. 471-480. Date of Electronic Publication: 2020 Jul 08.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Springer Country of Publication: Italy NLM ID: 7806594 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1720-8386 (Electronic) Linking ISSN: 03914097 NLM ISO Abbreviation: J Endocrinol Invest Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.
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  Data: <searchLink fieldCode="AU" term="%22Tang+W%22">Tang W</searchLink>; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.<br /><searchLink fieldCode="AU" term="%22Huang+X%22">Huang X</searchLink>; Department of Ophthalmology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.<br /><searchLink fieldCode="AU" term="%22Liu+Y%22">Liu Y</searchLink>; Department of Gastroenterology, The Third People's Hospital of Honghe Prefecture, Gejiu, 661000, Yunnan, China.<br /><searchLink fieldCode="AU" term="%22Lv+Q%22">Lv Q</searchLink>; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.<br /><searchLink fieldCode="AU" term="%22Li+T%22">Li T</searchLink>; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.<br /><searchLink fieldCode="AU" term="%22Song+Y%22">Song Y</searchLink>; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.<br /><searchLink fieldCode="AU" term="%22Zhang+X%22">Zhang X</searchLink>; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.<br /><searchLink fieldCode="AU" term="%22Chen+X%22">Chen X</searchLink>; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China. cxf3918@163.com.<br /><searchLink fieldCode="AU" term="%22Shi+Y%22">Shi Y</searchLink>; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China. young.stone@163.com.
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  Data: <searchLink fieldCode="JN" term="%227806594%22">Journal of endocrinological investigation</searchLink> [J Endocrinol Invest] 2021 Mar; Vol. 44 (3), pp. 471-480. <i>Date of Electronic Publication: </i>2020 Jul 08.
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>7806594 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1720-8386 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203914097%22">03914097 </searchLink><i>NLM ISO Abbreviation: </i>J Endocrinol Invest <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1007/s40618-020-01329-y
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      – Code: eng
        Text: English
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        StartPage: 471
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      – TitleFull: A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.
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            NameFull: Tang W
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            NameFull: Huang X
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            NameFull: Liu Y
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            NameFull: Song Y
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            – D: 01
              M: 03
              Text: 2021 Mar
              Type: published
              Y: 2021
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              Value: 44
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