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Articles

Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia

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Pages 381-388 | Received 15 Apr 2018, Accepted 25 May 2018, Published online: 28 Jun 2018

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Zeli Xun, Pengfei Gao, Yanan Du, Xue Yan, Jingmin Yang & Zhihua Wang. (2023) Novel Intronic Mutations of the SLC12A3 Gene in Patients with Gitelman Syndrome. International Journal of General Medicine 16, pages 1797-1806.
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Xinyue Zhang, Xiaohui Pan, Qin Wan, Jinfang Ma, Fang Zhang, Yuwei Zhang, Qingguo Lv, Sumin Shen & Nanwei Tong. (2022) Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%. Clinical Genetics 102:3, pages 228-233.
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Fernando Gómez-García, Raquel Martínez-Pulleiro, Noa Carrera, Catarina Allegue & Miguel A. Garcia-Gonzalez. (2022) Genetic Kidney Diseases (GKDs) Modeling Using Genome Editing Technologies. Cells 11:9, pages 1571.
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Laura Nuñez-Gonzalez, Noa Carrera & Miguel A. Garcia-Gonzalez. (2021) Molecular Basis, Diagnostic Challenges and Therapeutic Approaches of Bartter and Gitelman Syndromes: A Primer for Clinicians. International Journal of Molecular Sciences 22:21, pages 11414.
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Se Jin Park, Ju Young Kim, Hye-Jeong Ahn, Haing-Woon Baik & Ju Hyung Kang. (2021) Genetic analysis of the Gitelman syndrome coexisting with Osteogenesis imperfecta. Clinica Chimica Acta 518, pages 116-122.
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W. Tang, X. Huang, Y. Liu, Q. Lv, T. Li, Y. Song, X. Zhang, X. Chen & Y. Shi. (2020) A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress. Journal of Endocrinological Investigation 44:3, pages 471-480.
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Yu. V. Lavrishcheva & A. A. Yakovenko. (2019) Hereditary tubulopathy in the practice of adult nephrology. Case report. Translational Medicine 6:4, pages 35-41.
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