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Biophysical and Molecular Characterization of a Novel de novo KCNJ2 Mutation Associated with Andersen-Tawil Syndrome and CPVT Mimicry
BACKGROUND: Mutations in KCNJ2, the gene encoding the human inward rectifier potassium channel Kir2.1 (I(K1) or I(Kir2.1)), have been identified in Andersen-Tawil syndrome (ATS). ATS is a multisystem inherited disease exhibiting periodic paralysis, cardiac arrhythmias, and dysmorphic features at tim...
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| Main Authors: | , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3041844/ https://ncbi.nlm.nih.gov/pubmed/21148745 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.110.957696 |
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