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Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.
A congenital myasthenic condition has been described in several patients characterized by a deficiency in end-plate acetylcholinesterase (AChE). The characteristic form of AChE in the end-plate basal lamina has the catalytic subunits disulfide linked to a collagen-like tail unit. Southern analysis o...
Uloženo v:
| Vydáno v: | J Clin Invest |
|---|---|
| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Clinical Investigation
1995
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295436/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7814634/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117661 |
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