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Attention Score in Context
| Title |
Identification of a novel DMD duplication identified by a combination of MLPA and targeted exome sequencing
|
|---|---|
| Published in |
Molecular Cytogenetics, March 2017
|
| DOI | 10.1186/s13039-017-0301-0 |
| Pubmed ID | |
| Authors |
Beibei Wu, Liying Wang, Ting Dong, Jiahui Jin, Yili Lu, Huiping Wu, Yue Luo, Xiaoou Shan |
| Abstract |
Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the DMD gene. The aim of this study was to identify a de novo mutation of the DMD gene in the family of a 9-month-old Chinese male patient, as well as to describe the phenotypic characteristics of this patient. The patient was suspected to suffer from DMD according to physical examination, biochemical analyses, and electromyogram. We identified a duplication of exons 4-42 in DMD gene with targeted exome sequencing and multiplex ligation-dependent probe amplification (MLPA). In addition, the patient's mother was a carrier of the same mutation. We identified a de novo duplication of exons 4-42 in a patient with early stage DMD. The discovery of this mutation may provide insights into future investigations. |
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 10 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 10 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Postgraduate | 2 | 20% |
| Librarian | 1 | 10% |
| Student > Doctoral Student | 1 | 10% |
| Lecturer > Senior Lecturer | 1 | 10% |
| Student > Ph. D. Student | 1 | 10% |
| Other | 3 | 30% |
| Unknown | 1 | 10% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 4 | 40% |
| Agricultural and Biological Sciences | 2 | 20% |
| Medicine and Dentistry | 2 | 20% |
| Neuroscience | 1 | 10% |
| Unknown | 1 | 10% |
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 March 2017.
All research outputs
#20,411,380
of 22,961,203 outputs
Outputs from Molecular Cytogenetics
#298
of 402 outputs
Outputs of similar age
#269,561
of 309,217 outputs
Outputs of similar age from Molecular Cytogenetics
#5
of 6 outputs
Altmetric has tracked 22,961,203 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 402 research outputs from this source. They receive a mean Attention Score of 2.4. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one.