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Mendeley readers
Attention Score in Context
Title |
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation
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Published in |
BMC Pediatrics, September 2012
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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. |
X Demographics
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.
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Practitioners (doctors, other healthcare professionals) | 1 | 100% |
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
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.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 172,267 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
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.