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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder
|
|---|---|
| Published in |
Genetics and Molecular Biology, November 2017
|
| DOI | 10.1590/1678-4685-gmb-2016-0110 |
| Pubmed ID | |
| Authors |
Neda Golchin, Mohammadreza Hajjari, Reza Azizi Malamiri, Majid Aminzadeh, Javad Mohammadi-asl |
| Abstract |
Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the mutation type of the ARSA gene in three relative Iranian patients. We found a novel homozygous missense mutation c.1070 G > T (p.Gly357Val) in exon 6 of these patients. The mutation was found to be reported for the first time in MLD patients. The data can update the mutation profile and contribute toward improved clinical management and counseling of MLD patients. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 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 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 21 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 3 | 14% |
| Student > Bachelor | 3 | 14% |
| Lecturer > Senior Lecturer | 1 | 5% |
| Librarian | 1 | 5% |
| Student > Doctoral Student | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 10 | 48% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 4 | 19% |
| Biochemistry, Genetics and Molecular Biology | 2 | 10% |
| Agricultural and Biological Sciences | 1 | 5% |
| Immunology and Microbiology | 1 | 5% |
| Computer Science | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 10 | 48% |
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 08 November 2017.
All research outputs
#22,764,772
of 25,382,440 outputs
Outputs from Genetics and Molecular Biology
#647
of 772 outputs
Outputs of similar age
#300,725
of 342,377 outputs
Outputs of similar age from Genetics and Molecular Biology
#7
of 10 outputs
Altmetric has tracked 25,382,440 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 772 research outputs from this source. They receive a mean Attention Score of 4.8. This one is in the 1st percentile – i.e., 1% 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 342,377 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 10 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.