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Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations

Overview of attention for article published in Pediatric Blood and Cancer, September 2009
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Mentioned by

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4 Wikipedia pages

Citations

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117 Dimensions

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65 Mendeley
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Title
Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations
Published in
Pediatric Blood and Cancer, September 2009
DOI 10.1002/pbc.22244
Pubmed ID
Authors

Anke K. Bergmann, Dean R. Campagna, Erin M. McLoughlin, Suneet Agarwal, Mark D. Fleming, Sylvia S. Bottomley, Ellis J. Neufeld

Abstract

Sideroblastic anemias are heterogeneous congenital and acquired bone marrow disorders characterized by pathologic iron deposits in mitochondria of erythroid precursors. Among the congenital sideroblastic anemias (CSAs), the most common form is X-linked sideroblastic anemia, due to mutations in 5-aminolevulinate synthase (ALAS2). A novel autosomal recessive CSA, caused by mutations in the erythroid specific mitochondrial transporter SLC25A38, was recently defined. Other known etiologies include mutations in genes encoding the thiamine transporter SLC19A2, the RNA-modifying enzyme pseudouridine synthase 1 (PUS1), a mitochondrial ATP-binding cassette transporter (ABCB7), glutaredoxin 5 (GLRX5), as well as mitochondrial DNA deletions. Despite these known diverse causes, in a substantial portion of CSA cases a presumed genetic defect remains unknown.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 65 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 65 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 11 17%
Student > Ph. D. Student 10 15%
Other 6 9%
Student > Bachelor 6 9%
Professor > Associate Professor 5 8%
Other 15 23%
Unknown 12 18%
Readers by discipline Count As %
Medicine and Dentistry 16 25%
Biochemistry, Genetics and Molecular Biology 13 20%
Agricultural and Biological Sciences 11 17%
Unspecified 2 3%
Psychology 2 3%
Other 3 5%
Unknown 18 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. 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 July 2021.
All research outputs
#8,543,833
of 25,394,764 outputs
Outputs from Pediatric Blood and Cancer
#1,431
of 6,048 outputs
Outputs of similar age
#36,367
of 102,253 outputs
Outputs of similar age from Pediatric Blood and Cancer
#9
of 26 outputs
Altmetric has tracked 25,394,764 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 6,048 research outputs from this source. They receive a mean Attention Score of 3.7. This one has gotten more attention than average, scoring higher than 68% of its peers.
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 102,253 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 19th percentile – i.e., 19% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 26 others from the same source and published within six weeks on either side of this one. This one is in the 42nd percentile – i.e., 42% of its contemporaries scored the same or lower than it.