A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica.

A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. Research Abstract Details 

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A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. Abstract Text:

Sheila P Meftah,Helena Kuivaniemi,Gerard Tromp,Abdelhamid Kerkeni,Mohammed Tahar Sfar,Abdelkerim Ayadi,Ananda S Prasad,

Acrodermatitis enteropathica is a rare autosomal recessive disease that manifests as an inability of the affected individual to absorb intestinal zinc, and therefore patients have nutritional zinc deficiency. Without zinc therapy, this condition is fatal. Mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica. This gene encodes one member of a human zinc/iron-regulated transporter-like protein, also known as ZIP4, and consists of 12 exons and spans about 4.7 kb. We describe a novel mutation in a Tunisian family in which a chain termination codon in exon 3 yielded a truncated ZIP4 zinc transporter protein.

A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. Publishing Authors By Initials

SP Meftah,H Kuivaniemi,G Tromp,A Kerkeni,MT Sfar,A Ayadi,AS Prasad,

For similar inorganic chemicals: elements: metals, heavy: zinc research abstracts see: inorganic chemicals: elements: metals, heavy: zinc research

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A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Nutrition (Burbank, Los Angeles County, Calif.)

VOLUME: 22

Page Numbers: 1067-70

Journal Abbreviation:

ISSN: 0899-9007

DAY: 2

MONTH: 08

YEAR: 2006

A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. Information

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LANGUAGE: eng

NlmUniqueID: 8802712

A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. Keywords Mesh Terms:

KEYWORDS: Zinc

MESH TERMS: therapeutic use

Chemical & Substance for Abstract: A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica. Information

Substance Name: Zinc

Registry Number: 7440-66-6

Grant and Affiliation Information for A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica.

AFFILIATION: Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, Michigan, USA.

Country: United States

AGENCY: United States PHS

GRANT: 5R02A150698-04

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MEDLINETA: Nutrition

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