טוען...
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes
More than 80 mutations in the skeletal muscle ryanodine receptor gene have been found to be associated with autosomal dominant forms of malignant hyperthermia and central core disease, and with recessive forms of multi-minicore disease. Studies on the functional effects of pathogenic dominant mutati...
שמור ב:
| Main Authors: | , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Portland Press Ltd.
2006
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1422771/ https://ncbi.nlm.nih.gov/pubmed/16372898 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20051282 |
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