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Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2011
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Title
Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities
Published in
Orphanet Journal of Rare Diseases, November 2011
DOI 10.1186/1750-1172-6-74
Pubmed ID
Authors

Cameron M Beech, Sandya Liyanarachchi, Nidhi P Shah, Amy C Sturm, May F Sadiq, Albert de la Chapelle, Stephan M Tanner

Abstract

Imerslund-Gräsbeck syndrome (IGS) was described just over 50 years ago by Olga Imerslund and Ralph Gräsbeck and colleagues. IGS is caused by specific malabsorption of cobalamin (Cbl) due to bi-allelic mutations in either the cubilin gene (CUBN) or the human amnionless homolog (AMN). Mutations in the two genes are commonly seen in founder populations or in societies with a high degree of consanguineous marriages. One particular mutation in AMN, c.208-2A>G, causing an out-of-frame loss of exon 4 in the mRNA, is responsible for some 15% of IGS cases globally. We present evidence that this founder mutation causes a substantial percentage of cases among diverse ethnicities and that the mutation is as old as human civilization.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 1 4%
Argentina 1 4%
Brazil 1 4%
Unknown 25 89%

Demographic breakdown

Readers by professional status Count As %
Other 4 14%
Student > Ph. D. Student 3 11%
Student > Doctoral Student 3 11%
Professor 3 11%
Professor > Associate Professor 3 11%
Other 9 32%
Unknown 3 11%
Readers by discipline Count As %
Agricultural and Biological Sciences 8 29%
Medicine and Dentistry 5 18%
Biochemistry, Genetics and Molecular Biology 4 14%
Linguistics 2 7%
Psychology 2 7%
Other 2 7%
Unknown 5 18%
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 19 July 2023.
All research outputs
#17,132,733
of 25,171,799 outputs
Outputs from Orphanet Journal of Rare Diseases
#2,019
of 3,033 outputs
Outputs of similar age
#102,279
of 147,320 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#9
of 11 outputs
Altmetric has tracked 25,171,799 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 3,033 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.3. This one is in the 25th percentile – i.e., 25% of its peers scored the same or lower than it.
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We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one is in the 18th percentile – i.e., 18% of its contemporaries scored the same or lower than it.