Exonic mutations in the SLC12A3 gene cause exon skipping and premature termination in Gitelman syndrome.

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第一作者： Yoichi,Takeuchi

第一单位： Department of Clinical Biology and Hormonal Regulation and Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan;

作者： Yoichi,Takeuchi ^[1] ; Eikan,Mishima ^[2] ; Hisato,Shima ^[2] ; Yasutoshi,Akiyama ^[2] ; Chitose,Suzuki ^[2] ; Takehiro,Suzuki ^[2] ; Takayasu,Kobayashi ^[3] ; Yoichi,Suzuki ^[4] ; Tomohiro,Nakayama ^[5] ; Yasuhiro,Takeshima ^[6] ; Norma,Vazquez ^[7] ; Sadayoshi,Ito ^[2] ; Gerardo,Gamba ^[7] ; Takaaki,Abe ^[8]

作者单位： Department of Clinical Biology and Hormonal Regulation and Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan; ^[1] Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan; ^[2] Department of Biochemistry, Institute of Development, Aging and Cancer, and. ^[3] Department of Education and Training, Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan; ^[4] Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Tokyo, Japan; ^[5] Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan; and. ^[6] Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México and Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico. ^[7] Department of Clinical Biology and Hormonal Regulation and Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan; takaabe@med.tohoku.ac.jp. ^[8]

关键词 Gitelman‘s syndrome genetic renal disease hypokalemia