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Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits

Mutations in the K(V)7.2 gene encoding for voltage-dependent K(+) channel subunits cause neonatal epilepsies with wide phenotypic heterogeneity. Two mutations affecting the same positively charged residue in the S(4) domain of K(V)7.2 have been found in children affected with benign familial neonata...

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Detaylı Bibliyografya
Asıl Yazarlar: Miceli, Francesco, Soldovieri, Maria Virginia, Ambrosino, Paolo, Barrese, Vincenzo, Migliore, Michele, Cilio, Maria Roberta, Taglialatela, Maurizio
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2013
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3600471/
https://ncbi.nlm.nih.gov/pubmed/23440208
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1216867110
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