Article
Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.
Human mutation - 1 Oct 2003
Küry Sébastien, Kharfi Monia, Kamoun Ridha, Taïeb Alain, Mallet Eric, Baudon Jean-Jacques, Glastre Catherine, Michel Bruno, Sebag Francis, Brooks David, Schuster Volker, Scoul Catherine, Dréno Brigitte, Bézieau Stéphane, Moisan Jean-Paul
Abstract excerpt
Acrodermatitis enteropathica is rare autosomal recessive disorder characterized by a severe nutritional zinc deficiency. We and others have recently identified the human gene encoding an intestinal zinc transporter of the ZIP family, SLC39A4, as the mutated gene in acrodermatitis enteropathica (AE). A first mutation screening in 8 AE families (15 patients out of 36 individuals) revealed the presence of six...
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