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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ISSN:1720-8386
DOI:10.1007/s40618-020-01329-y