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Mendeley readers
Attention Score in Context
| Title |
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26
|
|---|---|
| Published in |
BMC Medical Genomics, August 2016
|
| DOI | 10.1186/s12881-016-0318-y |
| Pubmed ID | |
| Authors |
Mirella Meregalli, Simona Maciotta, Valentina Angeloni, Yvan Torrente |
| Abstract |
The dystrophin gene is the one of the largest described in human beings and mutations associated to this gene are responsible for Duchenne or Becker muscular dystrophies. Here we describe a nucleotide substitution in the acceptor splice site of intron 26 (c.3604-1G > C) carried by a 6-year-old boy who presented with a history of progressive proximal muscle weakness and elevated serum creatine kinase levels. RNA analysis showed that the first two nucleotides of the mutated intron 26 (AC) were not recognized by the splicing machinery and a new splicing site was created within exon 27, generating a premature stop codon and avoiding protein translation. The evaluation of the pathogenic effect of the mutation by mRNA analysis will be useful in the optics of an antisense oligonucleotides (AON)-based therapy. |
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 % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 51 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 51 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 11 | 22% |
| Student > Master | 11 | 22% |
| Researcher | 7 | 14% |
| Other | 4 | 8% |
| Student > Ph. D. Student | 2 | 4% |
| Other | 4 | 8% |
| Unknown | 12 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 20% |
| Agricultural and Biological Sciences | 5 | 10% |
| Biochemistry, Genetics and Molecular Biology | 4 | 8% |
| Veterinary Science and Veterinary Medicine | 3 | 6% |
| Social Sciences | 2 | 4% |
| Other | 11 | 22% |
| Unknown | 16 | 31% |
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 28 April 2017.
All research outputs
#17,285,668
of 25,373,627 outputs
Outputs from BMC Medical Genomics
#1,315
of 2,444 outputs
Outputs of similar age
#243,046
of 369,331 outputs
Outputs of similar age from BMC Medical Genomics
#27
of 46 outputs
Altmetric has tracked 25,373,627 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 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 36th percentile – i.e., 36% of its peers scored the same or lower than it.
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We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one is in the 32nd percentile – i.e., 32% of its contemporaries scored the same or lower than it.