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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls
|
|---|---|
| Published in |
BMC Musculoskeletal Disorders, February 2015
|
| DOI | 10.1186/s12891-015-0457-x |
| Pubmed ID | |
| Authors |
Ping Fang, Liang Li, Jian Zeng, Wan-Jun Zhou, Wei-Qing Wu, Ze-Yan Zhong, Ti-Zhen Yan, Jian-Sheng Xie, Jing Huang, Li Lin, Ying Zhao, Xiang-Min Xu |
| Abstract |
Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA. The aim of this study was to analyze the copy numbers and gene structures of SMA-related genes in Chinese SMA patients and unrelated healthy controls. Forty-two Chinese SMA patients and two hundred and twelve unrelated healthy Chinese individuals were enrolled in our study. The copy numbers and gene structures of SMA-related genes were measured by MLPA assay. We identified a homozygous deletion of SMN1 in exons 7 and 8 in 37 of 42 patients (88.1%); the other 5 SMA patients (11.9%) had a single copy of SMN1 exon 8. The proportions of the 212 unrelated healthy controls with different copy numbers for the normal SMN1 gene were 1 copy in 4 individuals (1.9%), 2 copies in 203 (95.7%) and 3 copies in 5 (2.4%). Three hybrid SMN genes and five genes that lack partial sequences were found in SMA patients and healthy controls. Distributions of copy numbers for normal SMN2 and NAIP were significantly different (P < 0.001) in people with and without SMA. The copy numbers and gene structures of SMA-related genes were different in Chinese SMA patients and healthy controls. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 76 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 76 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 11 | 14% |
| Student > Bachelor | 10 | 13% |
| Other | 7 | 9% |
| Researcher | 7 | 9% |
| Student > Ph. D. Student | 7 | 9% |
| Other | 9 | 12% |
| Unknown | 25 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 21 | 28% |
| Medicine and Dentistry | 7 | 9% |
| Agricultural and Biological Sciences | 7 | 9% |
| Pharmacology, Toxicology and Pharmaceutical Science | 3 | 4% |
| Neuroscience | 3 | 4% |
| Other | 6 | 8% |
| Unknown | 29 | 38% |
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 28 January 2024.
All research outputs
#7,289,791
of 25,247,084 outputs
Outputs from BMC Musculoskeletal Disorders
#1,356
of 4,384 outputs
Outputs of similar age
#93,789
of 364,411 outputs
Outputs of similar age from BMC Musculoskeletal Disorders
#16
of 48 outputs
Altmetric has tracked 25,247,084 research outputs across all sources so far. This one has received more attention than most of these and is in the 69th percentile.
So far Altmetric has tracked 4,384 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one has gotten more attention than average, scoring higher than 67% 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 364,411 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 73% of its contemporaries.
We're also able to compare this research output to 48 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 68% of its contemporaries.