| Title |
Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis enteropathica
|
|---|---|
| Published in |
Human Genetics, August 2001
|
| DOI | 10.1007/s004390100539 |
| Pubmed ID | |
| Authors |
Sébastien Küry, Marie-Claire Devilder, Hervé Avet-Loiseau, Brigitte Dreno, Jean-Paul Moisan |
| Abstract |
Slc30a4 is the fourth and last identified member of a mammalian proteins family presumably involved in the cellular transport of zinc, solute carrier family 30. The murine homologue of the human SLC30A4 gene has previously been investigated and found responsible for the lm, a phenotype due to zinc deficiency. According to the strong homology between mouse and human SLC30A4 coding sequences, and to the very similar clinical features encountered in the murine lm and in human acrodermatitis enteropathica, SLC30A4 has appeared to us to be a good candidate for acrodermatitis enteropathica. Here we detail the genomic structure of human SLC30A4 together with its localization on chromosome 15q15-q21. We also report the mutational analysis of human SLC30A4 in ten families with acrodermatitis enteropathica, which enabled us to exclude this gene from any involvement in the disorder of the patients examined. |
Mendeley readers
The data shown below were compiled from readership statistics for 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | 10% |
| Unknown | 9 | 90% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 3 | 30% |
| Professor | 2 | 20% |
| Student > Master | 2 | 20% |
| Unknown | 3 | 30% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 3 | 30% |
| Biochemistry, Genetics and Molecular Biology | 2 | 20% |
| Nursing and Health Professions | 1 | 10% |
| Immunology and Microbiology | 1 | 10% |
| Unknown | 3 | 30% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 January 2008.
All research outputs
#8,513,013
of 25,382,250 outputs
Outputs from Human Genetics
#1,013
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Outputs of similar age
#13,763
of 40,339 outputs
Outputs of similar age from Human Genetics
#4
of 14 outputs
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