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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...

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Опубликовано в: :J Clin Invest
Главные авторы: Camp, S, Bon, S, Li, Y, Getman, D K, Engel, A G, Massoulié, J, Taylor, P
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Clinical Investigation 1995
Предметы:
Online-ссылка: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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