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Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome
Andersen-Tawil syndrome is characterized by periodic paralysis, ventricular ectopy and dysmorphic features. Approximately 60% of patients exhibit loss-of-function mutations in KCNJ2, which encodes the inwardly rectifying K(+) channel pore forming subunit Kir2.1. Here, we report the identification of...
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| Päätekijät: | , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Landes Bioscience
2011
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3265798/ https://ncbi.nlm.nih.gov/pubmed/22186697 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/chan.5.6.18524 |
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