title: Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita.
authors.affiliation: Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232.
authors.forename: A L
authors.initials: AL
authors.lastname: George
authors.forename: K
authors.initials: K
authors.lastname: Sloan-Brown
authors.forename: G M
authors.initials: GM
authors.lastname: Fenichel
authors.forename: G A
authors.initials: GA
authors.lastname: Mitchell
authors.forename: R
authors.initials: R
authors.lastname: Spiegel
authors.forename: R M
authors.initials: RM
authors.lastname: Pascuzzi
mesh_terms: D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics*; D005091:Exons; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009224:Myotonia Congenita / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D018118:Chloride Channels