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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Whole exome sequencing identifies a novel EMDmutation in a Chinese family with dilated cardiomyopathy
|
|---|---|
| Published in |
BMC Medical Genomics, July 2014
|
| DOI | 10.1186/1471-2350-15-77 |
| Pubmed ID | |
| Authors |
Mingqiu Zhang, Jia Chen, Dayong Si, Yu Zheng, Haixu Jiao, Zhaohui Feng, Zhengmao Hu, Ranhui Duan |
| Abstract |
Variants in the emerin gene (EMD) were implicated in X-linked recessive Emery-Dreifuss muscular dystrophy (EDMD), characterized by early-onset contractures of tendons, progressive muscular weakness and cardiomyopathy. To date, 223 mutations have been reported in EMD gene and the majority of them caused a predominant skeletal muscular phenotype. In this study, we identified a novel deletion mutation in EMD exon 1, which results in almost a complete loss of emerin protein in a large Chinese family. However, the patients suffered severe dilated cardiomyopathy (DCM) but very mild skeletal muscle disorder. |
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 33 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 33 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 7 | 21% |
| Student > Bachelor | 4 | 12% |
| Student > Ph. D. Student | 4 | 12% |
| Student > Master | 4 | 12% |
| Unspecified | 3 | 9% |
| Other | 7 | 21% |
| Unknown | 4 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 11 | 33% |
| Biochemistry, Genetics and Molecular Biology | 5 | 15% |
| Agricultural and Biological Sciences | 4 | 12% |
| Unspecified | 3 | 9% |
| Nursing and Health Professions | 2 | 6% |
| Other | 3 | 9% |
| Unknown | 5 | 15% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. 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 September 2016.
All research outputs
#8,262,445
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#605
of 2,444 outputs
Outputs of similar age
#76,283
of 242,169 outputs
Outputs of similar age from BMC Medical Genomics
#8
of 33 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one has received more attention than most of these and is in the 66th percentile.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one has gotten more attention than average, scoring higher than 74% 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 242,169 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 67% of its contemporaries.
We're also able to compare this research output to 33 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 72% of its contemporaries.