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Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene

Overview of attention for article published in Orphanet Journal of Rare Diseases, December 2011
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Mentioned by

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1 peer review site

Citations

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17 Dimensions

Readers on

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29 Mendeley
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Title
Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene
Published in
Orphanet Journal of Rare Diseases, December 2011
DOI 10.1186/1750-1172-6-89
Pubmed ID
Authors

Francesca Punzo, Aida M Bertoli-Avella, Saverio Scianguetta, Fulvio Della Ragione, Maddalena Casale, Luisa Ronzoni, Maria D Cappellini, Gianluca Forni, Ben A Oostra, Silverio Perrotta

Abstract

Congenital dyserythropoietic anemia type II (CDAII), the most common form of CDA, is an autosomal recessive condition. CDAII diagnosis is based on invasive, expensive, and time consuming tests that are available only in specialized laboratories. The recent identification of SEC23B mutations as the cause of CDAII opens new possibilities for the molecular diagnosis of the disease. The aim of this study was to characterize molecular genomic SEC23B defects in 16 unrelated patients affected by CDAII and correlate the identified genetic alterations with SEC23B transcript and protein levels in erythroid precursors.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 29 100%

Demographic breakdown

Readers by professional status Count As %
Other 6 21%
Professor 3 10%
Student > Ph. D. Student 3 10%
Researcher 3 10%
Student > Bachelor 2 7%
Other 5 17%
Unknown 7 24%
Readers by discipline Count As %
Agricultural and Biological Sciences 7 24%
Medicine and Dentistry 6 21%
Biochemistry, Genetics and Molecular Biology 4 14%
Computer Science 1 3%
Chemistry 1 3%
Other 0 0%
Unknown 10 34%
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 12 January 2017.
All research outputs
#15,293,290
of 22,743,667 outputs
Outputs from Orphanet Journal of Rare Diseases
#1,781
of 2,607 outputs
Outputs of similar age
#163,122
of 243,806 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#35
of 42 outputs
Altmetric has tracked 22,743,667 research outputs across all sources so far. This one is in the 22nd percentile – i.e., 22% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,607 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 7.5. This one is in the 23rd percentile – i.e., 23% 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 243,806 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 21st percentile – i.e., 21% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 42 others from the same source and published within six weeks on either side of this one. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.