Diversity of functional alterations of the ClC-5 exchanger in the region of the proton glutamate in patients with Dent disease 1.


Journal

Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429

Informations de publication

Date de publication:
05 2021
Historique:
revised: 04 02 2021
received: 25 09 2020
accepted: 14 02 2021
pubmed: 19 2 2021
medline: 1 4 2022
entrez: 18 2 2021
Statut: ppublish

Résumé

Mutations in the CLCN5 gene encoding the 2Cl

Identifiants

pubmed: 33600050
doi: 10.1002/humu.24184
doi:

Substances chimiques

Chloride Channels 0
Protons 0
Glutamic Acid 3KX376GY7L

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

537-550

Informations de copyright

© 2021 Wiley Periodicals LLC.

Références

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Auteurs

Imène Sakhi (I)

Laboratoire Physiologie Rénale et Tubulopathies, Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Paris, France.
CNRS ERL 8228, Paris, France.

Yohan Bignon (Y)

Centre Universitaire des Saints Pères, INSERM, Université Paris Descartes, Paris, France.

Nadia Frachon (N)

Laboratoire Physiologie Rénale et Tubulopathies, Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Paris, France.
CNRS ERL 8228, Paris, France.

Marguerite Hureaux (M)

Département de génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.

Bárbara Arévalo (B)

Center for Bioinformatics and Molecular Simulations (CBSM), Universidad de Talca, Talca, Chile.

Wendy González (W)

Center for Bioinformatics and Molecular Simulations (CBSM), Universidad de Talca, Talca, Chile.
Millennium Nucleus of Ion Channels-Associated Diseases (MiNICAD), Universidad de Talca, Talca, Chile.

Rosa Vargas-Poussou (R)

Laboratoire Physiologie Rénale et Tubulopathies, Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Paris, France.
CNRS ERL 8228, Paris, France.
Département de génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.

Stéphane Lourdel (S)

Laboratoire Physiologie Rénale et Tubulopathies, Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Paris, France.
CNRS ERL 8228, Paris, France.

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