تحميل...

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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Ducreux, Sylvie, Zorzato, Francesco, Ferreiro, Ana, Jungbluth, Heinz, Muntoni, Francesco, Monnier, Nicole, Müller, Clemens R., Treves, Susan
التنسيق: Artigo
اللغة:Inglês
منشور في: Portland Press Ltd. 2006
الموضوعات:
الوصول للمادة أونلاين: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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