Concepedia

Publication | Closed Access

Functional Characterization of a Novel Missense <i>CLCN5</i> Mutation Causing Alterations in Proximal Tubular Endocytic Machinery in Dent’s Disease

DOI

22

Citations

26

References

2007

Year

Atsuhito Tanuma, Hiroyoshi Sato, T. Takeda, Michihiro Hosojima, Hiroaki Obayashi, Hitomi Hama, Noriaki Iino, Kiyoko Hosaka, Ryohei Kaseda, Naofumi Imai,
Nephron Physiology

Abstract

A novel G333R CLCN5 mutation caused defective expression of megalin, cubilin, and Dab2 in a patient with Dent's disease.

References

YearCitations

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