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Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

Overview of attention for article published in Orphanet Journal of Rare Diseases, February 2013
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Title
Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
Published in
Orphanet Journal of Rare Diseases, February 2013
DOI 10.1186/1750-1172-8-30
Pubmed ID
Authors

Sara Luscieti, Gabriele Tolle, Jessica Aranda, Carmen Benet Campos, Frank Risse, Érica Morán, Martina U Muckenthaler, Mayka Sánchez

Abstract

Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease is caused by mutations in the Iron-Responsive Element (IRE) located in the 5' untranslated region of L-Ferritin (FTL) mRNA, which post-transcriptionally regulates ferritin expression.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 31 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 31 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 23%
Student > Bachelor 5 16%
Researcher 4 13%
Student > Master 2 6%
Professor 2 6%
Other 3 10%
Unknown 8 26%
Readers by discipline Count As %
Agricultural and Biological Sciences 8 26%
Biochemistry, Genetics and Molecular Biology 7 23%
Medicine and Dentistry 4 13%
Immunology and Microbiology 1 3%
Pharmacology, Toxicology and Pharmaceutical Science 1 3%
Other 2 6%
Unknown 8 26%
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 25 February 2013.
All research outputs
#18,331,227
of 22,699,621 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,123
of 2,600 outputs
Outputs of similar age
#146,841
of 193,023 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#35
of 43 outputs
Altmetric has tracked 22,699,621 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,600 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one is in the 6th percentile – i.e., 6% of its peers scored the same or lower than it.
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We're also able to compare this research output to 43 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.