Heterogeneity in the processing of CLCN5 mutants related to Dent disease-Reference-Cited by-同舟云学术

Heterogeneity in the processing of CLCN5 mutants related to Dent disease

Published:2011-03-15 Issue:4 Volume:32 Page:476-483
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Grand Teddy¹²³,L'Hoste Sébastien¹²³,Mordasini David¹²³,Defontaine Nadia¹²³,Keck Mathilde¹²³,Pennaforte Thomas¹²³,Genete Mathieu¹²³,Laghmani Kamel¹²³,Teulon Jacques¹²³,Lourdel Stéphane¹²³

Affiliation:

1. UPMC Univ Paris 06, UMR_S 872, Laboratoire de génomique, physiologie et physiopathologie rénales, Paris, France

2. INSERM, UMR_S 872, Laboratoire de génomique, physiologie et physiopathologie rénales, Paris, France

3. CNRS, ERL 7226, Laboratoire de génomique, physiologie et physiopathologie rénales, Paris, France

Funder

The French ANR Program

The Bonus Qualité Recherche from the UPMC-Université Paris 06

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.21467

Reference38 articles.

1. Family history may be misleading in the diagnosis of Dent’s disease

2. CLC-0 and CFTR: Chloride Channels Evolved From Transporters

3. Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease

4. Molecular Cloning and Characterization of an Intracellular Chloride Channel in the Proximal Tubule Cell Line, LLC-PK1

5. X-ray structure of a ClC chloride channel at 3.0 Å reveals the molecular basis of anion selectivity

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