Article
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.
American journal of human genetics - 1 Jun 2002
Dodé Catherine, Le Dû Nathalie, Cuisset Laurence, Letourneur Frank, Berthelot Jean-Marie, Vaudour Gérard, Meyrier Alain, Watts Richard A, Scott David G I, Nicholls Anne, Granel Brigitte, Frances Camille, Garcier François, Edery Patrick, Boulinguez Serge, Domergues Jean-Paul, Delpech Marc, Grateau Gilles
Abstract excerpt
Mutations of CIAS1 have recently been shown to underlie familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS), in three families and one family, respectively. These rare autosomal dominant diseases are both characterized by recurrent inflammatory crises that start in childhood and that ar...
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