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Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls

Overview of attention for article published in BMC Musculoskeletal Disorders, February 2015
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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.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

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 6 18%
Student > Bachelor 6 18%
Other 5 15%
Unspecified 4 12%
Student > Master 4 12%
Other 8 24%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 12 36%
Agricultural and Biological Sciences 7 21%
Unspecified 5 15%
Medicine and Dentistry 4 12%
Pharmacology, Toxicology and Pharmaceutical Science 2 6%
Other 3 9%

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 07 February 2015.
All research outputs
#3,324,136
of 5,028,713 outputs
Outputs from BMC Musculoskeletal Disorders
#1,184
of 1,694 outputs
Outputs of similar age
#114,397
of 179,590 outputs
Outputs of similar age from BMC Musculoskeletal Disorders
#28
of 43 outputs
Altmetric has tracked 5,028,713 research outputs across all sources so far. This one is in the 29th percentile – i.e., 29% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,694 research outputs from this source. They receive a mean Attention Score of 4.2. This one is in the 21st percentile – i.e., 21% of its peers scored the same or lower than it.
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 179,590 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 31st percentile – i.e., 31% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 43 others from the same source and published within six weeks on either side of this one. This one is in the 6th percentile – i.e., 6% of its contemporaries scored the same or lower than it.