Your browser doesn't support javascript.
loading
Analysis of CLCNKB mutations at dimer-interface, calcium-binding site, and pore reveals a variety of functional alterations in ClC-Kb channel leading to Bartter syndrome.
Bignon, Yohan; Sakhi, Imene; Bitam, Sara; Bakouh, Naziha; Keck, Mathilde; Frachon, Nadia; Paulais, Marc; Planelles, Gabrielle; Teulon, Jacques; Andrini, Olga.
Affiliation
  • Bignon Y; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.
  • Sakhi I; CNRS ERL8228, Paris, France.
  • Bitam S; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.
  • Bakouh N; CNRS ERL8228, Paris, France.
  • Keck M; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.
  • Frachon N; CNRS ERL8228, Paris, France.
  • Paulais M; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.
  • Planelles G; CNRS ERL8228, Paris, France.
  • Teulon J; Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Laboratoire Physiologie Rénale et Tubulopathies, Paris, France.
  • Andrini O; CNRS ERL8228, Paris, France.
Hum Mutat ; 41(4): 774-785, 2020 04.
Article in En | MEDLINE | ID: mdl-31803959
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bartter Syndrome / Binding Sites / Calcium / Chloride Channels / Protein Multimerization / Mutation Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Bartter Syndrome / Binding Sites / Calcium / Chloride Channels / Protein Multimerization / Mutation Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: Country of publication: