In vivo and in vitro functional characterization of Andersen's syndrome mutations

The inward rectifier K(+) channel Kir2.1 carries all Andersen's syndrome mutations identified to date. Patients exhibit symptoms of periodic paralysis, cardiac dysrhythmia and multiple dysmorphic features. Here, we report the clinical manifestations found in three families with Andersen's...

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Detalhes bibliográficos
Main Authors: Bendahhou, Saïd, Fournier, Emmanuel, Sternberg, Damien, Bassez, Guillaume, Furby, Alain, Sereni, Carole, Donaldson, Matthew R, Larroque, Marie-Madeleine, Fontaine, Bertrand, Barhanin, Jacques
Formato: Artigo
Idioma:Inglês
Publicado em: Blackwell Science Inc 2005
Assuntos:
Molecular and Genomic Physiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1464553/
https://ncbi.nlm.nih.gov/pubmed/15831539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/jphysiol.2004.081620
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