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Nat Genet. 2002 Jul;31(3):239-40. Epub 2002 Jun 17.

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.

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  • 1Laboratoire d'Etude du Polymorphisme de l'ADN, Faculté de Médecine, 1 rue Gaston Veil, 44035 Nantes Cedex, France. skury@sante.univ-nantes.fr

Abstract

We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.

PMID:
12068297
[PubMed - indexed for MEDLINE]
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