Pathogenic mechanisms of RAPSN mutations in congenital myasthenic syndromes
<p>Rapsyn is essential for clustering acetylcholine receptors (AChR) at the neuromuscular junction (NMJ). Congenital myasthenic syndrome (CMS) due to <em>RAPSN</em> mutations compromises neuromuscular transmission through a deficiency of AChR at the NMJ. <em>RAPSN</em>...
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| Médium: | Diplomová práce |
| Jazyk: | English |
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2016
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