Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. [electronic resource]
Producer: 20030423Description: 236-44 p. digitalISSN:- 0960-8966
- Acetylcholinesterase -- deficiency
- Adult
- Alanine -- genetics
- Animals
- Bungarotoxins
- Collagen -- genetics
- DNA Mutational Analysis -- methods
- Exons
- Female
- Gene Expression
- Glycine -- genetics
- Humans
- In Vitro Techniques
- Microscopy, Confocal -- methods
- Microscopy, Electron -- methods
- Middle Aged
- Motor Endplate -- enzymology
- Muscle Proteins
- Muscle, Skeletal -- enzymology
- Mutation
- Myasthenic Syndromes, Congenital -- etiology
- Oocytes
- Polymerase Chain Reaction -- methods
- Polymorphism, Single-Stranded Conformational
- RNA, Messenger -- biosynthesis
- Rats
- Xenopus
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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