Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease | Zendy

I. Carballo-Trujillo | Zendy; Víctor Manuel García Nieto | Zendy; F. J. Moya-Angeler | Zendy; Montserrat Antón Gamero | Zendy; C Loris | Zendy; Sebastián Méndez-Álvarez | Zendy; Félix Claverie-Martı́n | Zendy

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Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease

Author(s) -

I. Carballo-Trujillo,

Víctor Manuel García Nieto,

F. J. Moya-Angeler,

Montserrat Antón Gamero,

C Loris,

Sebastián Méndez-Álvarez,

Félix Claverie-Martı́n

Publication year - 2003

Publication title -

nephrology dialysis transplantation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.654

H-Index - 168

eISSN - 1460-2385

pISSN - 0931-0509

DOI - 10.1093/ndt/gfg016

Subject(s) - hypercalciuria , nephrocalcinosis , genetics , medicine , exon , nonsense mutation , missense mutation , frameshift mutation , point mutation , mutation , gene , biology , kidney , urinary system

Dent's disease is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and eventual renal failure. The disease is caused by mutations in the X-linked chloride channel CLCN5 gene, which encodes a 746-amino-acid protein expressed in renal tubules. These mutations have been reported in unrelated families from the UK, USA, Japan and other countries. We were interested in identifying additional mutations in the CLCN5 coding region of Spanish patients with Dent's disease.

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