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Nature Research, Nature Genetics, 3(31), p. 239-240, 2002

DOI: 10.1038/ng913

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Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.