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The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation

Overview of attention for article published in BMC Pediatrics, September 2012
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Title
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation
Published in
BMC Pediatrics, September 2012
DOI 10.1186/1471-2431-12-150
Pubmed ID
Authors

Gregorio León-García, Alfredo Santana, Nicolás Villegas-Sepúlveda, Concepción Pérez-González, José M Henrríquez-Esquíroz, Carlota de León-García, Carlos Wong, Isabel Baeza

Abstract

The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation motif that is involved in the catalytic activity of ATP7A. We also describe the clinical course and the response to copper treatment in this patient.

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The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 15 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 15 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 4 27%
Student > Bachelor 2 13%
Student > Ph. D. Student 2 13%
Student > Master 2 13%
Other 1 7%
Other 1 7%
Unknown 3 20%
Readers by discipline Count As %
Medicine and Dentistry 5 33%
Biochemistry, Genetics and Molecular Biology 1 7%
Agricultural and Biological Sciences 1 7%
Nursing and Health Professions 1 7%
Social Sciences 1 7%
Other 1 7%
Unknown 5 33%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 21 September 2012.
All research outputs
#21,264,673
of 23,881,329 outputs
Outputs from BMC Pediatrics
#2,709
of 3,143 outputs
Outputs of similar age
#153,782
of 172,267 outputs
Outputs of similar age from BMC Pediatrics
#42
of 47 outputs
Altmetric has tracked 23,881,329 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,143 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.8. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 47 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.