Novel <i>PKD2</i> Missense Mutation p.Ile424Ser in an Individual with Multiple Hepatic Cysts: A Case Report

We report a novel missense mutation, p.Ile424Ser, in the <i>PKD2</i> gene of an autosomal dominant polycystic kidney disease (ADPKD) patient with multiple liver cysts. A 57-year-old woman presented to our university hospital with abdominal fullness, decreasing appetite, and dyspnea for t...

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Main Authors: Seiko Miura, Yo Niida, Chieko Hashizume, Ai Fujii, Yuta Takagaki, Kahoru Kusama, Sumiyo Akazawa, Tetsuya Minami, Tsuyoshi Mukai, Kengo Furuichi, Mutsumi Tsuchishima, Nobuhiko Ueda, Hiroyuki Takamura, Daisuke Koya, Tohru Ito
格式: 文件
语言:English
出版: MDPI AG 2022-03-01
丛编:Medicines
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在线阅读:https://www.mdpi.com/2305-6320/9/4/25