| Evidence | Deletion in Kidney Neoplasms
Deletion in System Syndrom with Kidney Involvment
Mutation in End-Stage Renal Disease
Mutation in Nephrolithiasis
- Hoopes RR Jr, Hueber PA, Reid RJ Jr, Braden GL, Goodyer PR, Melnyk AR, Midgley JP, Moel DI, Neu AM, VanWhy SK, Scheinman SJ CLCN5 chloride-channel mutations in six new North American families withX-linked nephrolithiasis. Kidney Int 1998 Sep;54(3):698-705.
Mutation in System Syndrom with Kidney Involvment
- Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV, Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV, Igarashi T, Inatomi J, Ohara T, Kuwahara T, Shimadzu M, Thakker RV Clinical and genetic studies of CLCN5 mutations in Japanese families withDent's disease. Kidney Int 2000 Aug;58(2):520-7.
- Yamamoto K, Cox JP, Friedrich T, Christie PT, Bald M, Houtman PN, Lapsley MJ, Patzer L, Tsimaratos M, Van'T Hoff WG, Yamaoka K, Jentsch TJ, Thakker RV Characterization of renal chloride channel (CLCN5) mutations in Dent'sdisease. J Am Soc Nephrol 2000 Aug;11(8):1460-8.
- Cox JP, Yamamoto K, Christie PT, Wooding C, Feest T, Flinter FA, Goodyer PR, Leumann E, Neuhaus T, Reid C, Williams PF, Wrong O, Thakker RV, Cox JP, Yamamoto K, Christie PT, Wooding C, Feest T, Flinter FA, Goodyer PR, Leumann E, Neuhaus T, Reid C, Williams PF, Wrong O, Thakker RV Renal chloride channel, CLCN5, mutations in Dent's disease. J Bone Miner Res 1999 Sep;14(9):1536-42.
- Igarashi T, Gunther W, Sekine T, Inatomi J, Shiraga H, Takahashi S, Suzuki J, Tsuru N, Yanagihara T, Shimazu M, Jentsch TJ, Thakker RV, Igarashi T, Gunther W, Sekine T, Inatomi J, Shiraga H, Takahashi S, Suzuki J, Tsuru N, Yanagihara T, Shimazu M, Jentsch TJ, Thakker RV Functional characterization of renal chloride channel, CLCN5, mutationsassociated with Dent'sJapan disease. Kidney Int 1998 Dec;54(6):1850-6.
- Claverie-Martin F, Gonzalez-Acosta H, Flores C, Anton-Gamero M, Garcia-Nieto V, Claverie-Martin F, Gonzalez-Acosta H, Flores C, Anton-Gamero M, Garcia-Nieto V, Claverie-Martin F, Gonzalez-Acosta H, Flores C, Anton-Gamero M, Garcia-Nieto V De novo insertion of an Alu sequence in the coding region of the CLCN5gene results in Dent's disease. Hum Genet 2003 Nov;113(6):480-5. Epub 2003 Aug 29.
Other key publications related to this gene
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