An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity

Chloride intracellular channel 2 (CLIC2) protein is a member of the glutathione transferase class of proteins. Its' only known function is the regulation of ryanodine receptor (RyR) intracellular Ca(2+) release channels. These RyR proteins play a major role in the regulation of Ca(2+) signaling...

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Hlavní autoři: Takano, Kyoko, Liu, Dan, Tarpey, Patrick, Gallant, Esther, Lam, Alex, Witham, Shawn, Alexov, Emil, Chaubey, Alka, Stevenson, Roger E., Schwartz, Charles E., Board, Philip G., Dulhunty, Angela F.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3459470/
https://ncbi.nlm.nih.gov/pubmed/22814392
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds292
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