Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

Zahra Ataei; Zahra Nouri; Farial Tavakoli; Mohammad Reza Pourreza; Sina Narrei; Mohammad Amin Tabatabaiefar

doi:10.1371/journal.pone.0282304

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Open Access

Peer-reviewed

Research Article

Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

Zahra Ataei,

Roles Data curation, Investigation, Methodology, Project administration, Validation, Writing – original draft

Affiliations Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
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Zahra Nouri,

Roles Data curation, Investigation, Software, Validation, Visualization, Writing – review & editing

Affiliations Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran
⨯
Farial Tavakoli,

Roles Formal analysis, Investigation, Software, Visualization, Writing – original draft

Affiliation Department of Cell and Molecular Biology & Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran
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Mohammad Reza Pourreza,

Roles Formal analysis, Software

Affiliation Core research facilities, Isfahan University of Medical Sciences, Isfahan, Iran
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Sina Narrei,

Roles Formal analysis, Software

Affiliations Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, Department of Research and Development, ERYTHROGEN Medical Genetics Lab, Isfahan, Iran
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Mohammad Amin Tabatabaiefar

Roles Conceptualization, Data curation, Methodology, Project administration, Supervision, Validation, Writing – review & editing

* E-mail: tabatabaiefar@med.mui.ac.ir, tabatabaiefar@gmail.com

Affiliations Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran, Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

https://orcid.org/0000-0003-0730-750X

⨯

Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

Zahra Ataei,
Zahra Nouri,
Farial Tavakoli,
Mohammad Reza Pourreza,
Sina Narrei,
Mohammad Amin Tabatabaiefar

Published: February 27, 2023
https://doi.org/10.1371/journal.pone.0282304

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