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Attention Score in Context
| Title |
Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR
|
|---|---|
| Published in |
Genetics and Molecular Biology, December 2012
|
| DOI | 10.1590/s1415-47572012000600010 |
| Pubmed ID | |
| Authors |
Fernanda Marques de Souza Godinho, Hugo Bock, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira |
| Abstract |
Spinal muscular atrophy (SMA) is an autosomal recessive inherited disorder caused by alterations in the survival motor neuron I (SMN1) gene. SMA patients are classified as type I-IV based on severity of symptoms and age of onset. About 95% of SMA cases are caused by the homozygous absence of SMN1 due to gene deletion or conversion into SMN2. PCR-based methods have been widely used in genetic testing for SMA. In this work, we introduce a new approach based on TaqMan(®)real-time PCR for research and diagnostic settings. DNA samples from 100 individuals with clinical signs and symptoms suggestive of SMA were analyzed. Mutant DNA samples as well as controls were confirmed by DNA sequencing. We detected 58 SMA cases (58.0%) by showing deletion of SMN1 exon 7. Considering clinical information available from 56 of them, the patient distribution was 26 (46.4%) SMA type I, 16 (28.6%) SMA type II and 14 (25.0%) SMA type III. Results generated by the new method was confirmed by PCR-RFLP and by DNA sequencing when required. In conclusion, a protocol based on real-time PCR was shown to be effective and specific for molecular analysis of SMA patients. |
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 % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Scientists | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 1 | 3% |
| Unknown | 33 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 6 | 18% |
| Professor | 5 | 15% |
| Student > Ph. D. Student | 4 | 12% |
| Other | 3 | 9% |
| Researcher | 3 | 9% |
| Other | 5 | 15% |
| Unknown | 8 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 9 | 26% |
| Biochemistry, Genetics and Molecular Biology | 8 | 24% |
| Medicine and Dentistry | 7 | 21% |
| Unknown | 10 | 29% |
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 18 February 2013.
All research outputs
#20,656,820
of 25,374,647 outputs
Outputs from Genetics and Molecular Biology
#551
of 771 outputs
Outputs of similar age
#228,600
of 288,545 outputs
Outputs of similar age from Genetics and Molecular Biology
#15
of 17 outputs
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So far Altmetric has tracked 771 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 16th percentile – i.e., 16% of its peers scored the same or lower than it.
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