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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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| Main Authors: | , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Oxford University Press
2012
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| Acceso en liña: | 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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