Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. [electronic resource]
Producer: 19970721Description: 753-66 p. digitalISSN:- 0964-6906
- Acetylcholine -- pharmacology
- Action Potentials
- Adult
- Alleles
- Amino Acid Sequence
- Animals
- Binding, Competitive
- Child
- Child, Preschool
- Electrophysiology
- Female
- Fibroblasts -- drug effects
- Humans
- Infant
- Infant, Newborn
- Kinetics
- Male
- Mice
- Molecular Sequence Data
- Motor Endplate -- metabolism
- Mutation
- Myasthenia Gravis -- congenital
- Patch-Clamp Techniques
- Rats
- Receptors, Cholinergic -- deficiency
- Recombinant Proteins -- genetics
- Sequence Alignment
- Sequence Homology, Amino Acid
- Transfection
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Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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