@article{e54a79ce17b94919839f5e941e6a1cad,
title = "A novel mutation (R218Q) at the boundary between the N-terminal and the first transmembrane domain of the glycine receptor in a case of sporadic hyperekplexia",
keywords = "DNA Mutational Analysis, Female, Humans, Infant, Newborn, Male, Molecular Sequence Data, Mutation, Protein Structure, Tertiary, Receptors, Glycine, Startle Reaction",
author = "{Miraglia Del Giudice}, E and G Coppola and G Bellini and P Ledaal and Hertz, {Jens Michael} and A Pascotto",
year = "2003",
language = "English",
volume = "40",
pages = "e71",
journal = "Journal of Medical Genetics",
issn = "0022-2593",
publisher = "B M J Group",
number = "5",
}