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Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.

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第一作者： Naoko,Ito

第一单位： Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8583, Japan. naokoito@pediatr.med.kyushu-u.ac.jp.

作者： Naoko,Ito ^[1] ; Kenji,Ihara ^[2] ; Tomohiro,Kamoda ^[3] ; Satoshi,Akamine ^[4] ; Kentaro,Kamezaki ^[4] ; Noboru,Tsuru ^[5] ; Ryo,Sumazaki ^[3] ; Toshiro,Hara ^[6]

作者单位： Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8583, Japan. naokoito@pediatr.med.kyushu-u.ac.jp. ^[1] Department of Pediatrics, Faculty of Medicine, Oita University, 1-1 Idaigaoka, Hasama, Yufu, Oita, 879-5593, Japan. ^[2] Department of Pediatrics, University of Tsukuba, 1-1-1 Tennoudai, Tsukuba, Ibaraki, 305-8575, Japan. ^[3] Department of Pediatrics, National Hospital Organization Kokura Medical Center, 10-1 Harugaoka, Kokuraminami-ku, Kitakyushu, Fukuoka, 802-8533, Japan. ^[4] Tsuru Noboru Clinic, 2-5-8 Hirao, Chuo-ku, Fukuoka, 810-0014, Japan. ^[5] Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8583, Japan. ^[6]

关键词 Anion exchanger 1 Autosomal dominant Distal renal tubular acidosis Dominant negative Hypokalemia SLC4A1

DOI 10.1007/s13730-015-0172-3

PMID 28509104

发布时间 2019-11-20

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2015年4卷2期

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Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.

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Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family.

CEN case reports

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CEN case reports

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