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Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder

Overview of attention for article published in Genetics and Molecular Biology, November 2017
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1 tweeter

Citations

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18 Mendeley
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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.

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 18 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 18 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 17%
Student > Bachelor 3 17%
Librarian 1 6%
Lecturer > Senior Lecturer 1 6%
Unspecified 1 6%
Other 1 6%
Unknown 8 44%
Readers by discipline Count As %
Medicine and Dentistry 3 17%
Computer Science 1 6%
Agricultural and Biological Sciences 1 6%
Biochemistry, Genetics and Molecular Biology 1 6%
Immunology and Microbiology 1 6%
Other 3 17%
Unknown 8 44%

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
#10,742,193
of 12,114,099 outputs
Outputs from Genetics and Molecular Biology
#241
of 288 outputs
Outputs of similar age
#239,192
of 285,226 outputs
Outputs of similar age from Genetics and Molecular Biology
#5
of 10 outputs
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So far Altmetric has tracked 288 research outputs from this source. They receive a mean Attention Score of 2.1. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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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 5 of them.