Mutations in the Muscle SodiumChannel Gene (SCN4A) in 13 FrenchFamilies with Hyperkalemic PeriodicParalysis and ParamyotoniaCongenita: Phenotype to GenotypeCorrelations and Demonstration of thePredominance of Two Mutations

Emmanuelle Plassart(Inserm), J Reboul(Inserm), Claire-Sophie Rime(Inserm), Dominique Récan(Hôpital Cochin), Philippe Millasseau(Genethon (France)), B. Eymard(Sorbonne Université), Jean Pelletier(Hôpital de la Timone), C. Thomas, Françoise Chapon(Centre Hospitalier Universitaire de Caen), Claude Desnuelle(Centre Hospitalier Universitaire de Nice), Christian Confavreux, B Bady, Jean-Jacques Martin, Gilbert Lenoir, G Serratrice, Michel Fardeau, Bertrand Fontaine
European Journal of Human Genetics
January 1, 1994
Cited by 56

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