Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. [electronic resource]
Producer: 20020415Description: 603-9 p. digitalISSN:- 0028-3878
- Acetylcholinesterase -- biosynthesis
- Action Potentials -- genetics
- Adolescent
- Adult
- Amino Acid Substitution -- genetics
- Animals
- COS Cells -- metabolism
- Child
- Child, Preschool
- Collagen -- biosynthesis
- Female
- Genetic Variation -- genetics
- Glycine -- genetics
- Humans
- Male
- Middle Aged
- Motor Endplate -- genetics
- Muscle Proteins
- Mutation -- genetics
- Myasthenic Syndromes, Congenital -- genetics
- Pedigree
- Phenotype
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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