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Variable Loss of Kir4.1 channel Function In SeSAME Syndrome Mutations
SeSAME syndrome is a complex disease characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. Mutations in the inwardly rectifying potassium channel Kir4.1 (KCNJ10 gene) have been linked to this condition. Kir4.1 channels are weakly rectifying channel...
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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/PMC2940129/ https://ncbi.nlm.nih.gov/pubmed/20678478 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbrc.2010.07.105 |
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