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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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Main Authors: Camp, S, Bon, S, Li, Y, Getman, D K, Engel, A G, Massoulié, J, Taylor, P
格式: Artigo
語言:Inglês
出版: 1995
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC295436/
https://ncbi.nlm.nih.gov/pubmed/7814634
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