Literature DB >> 8395162

The spectrum of congenital end-plate acetylcholinesterase deficiency.

D O Hutchinson1, A G Engel, T J Walls, S Nakano, S Camp, P Taylor, C M Harper, J M Brengman.   

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Year:  1993        PMID： 8395162     DOI： 10.1111/j.1749-6632.1993.tb22931.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  2 in total

1.  Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme.

Authors:  K Ohno; J Brengman; A Tsujino; A G Engel
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-04       Impact factor: 11.205

2.  Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.

Authors:  S Camp; S Bon; Y Li; D K Getman; A G Engel; J Massoulié; P Taylor
Journal:  J Clin Invest       Date:  1995-01       Impact factor: 14.808
  2 in total

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