LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. [electronic resource]
Producer: 20120824Description: 1123-35 p. digitalISSN:- 1432-1203
- Acetylcholinesterase -- metabolism
- Adult
- Agrin -- chemistry
- Base Sequence
- Cell Line
- Codon, Nonsense
- Dystroglycans -- metabolism
- Female
- HEK293 Cells
- Humans
- Male
- Models, Molecular
- Muscle Fibers, Skeletal -- metabolism
- Muscle, Skeletal -- metabolism
- Mutation, Missense
- Myasthenic Syndromes, Congenital -- genetics
- Neuromuscular Junction -- metabolism
- Pedigree
- Receptors, Cholinergic -- genetics
- Sequence Analysis, DNA
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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