Four novel <i>ARSA</i> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.

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作者： Masoumeh,Dehghan Manshadi ^[1] ; Behnam,Kamalidehghan ^[2] ; Omid,Aryani ^[3] ; Elham,Khalili ^[1] ; Sepideh,Dadgar ^[1] ; Mahdi,Tondar ^[1] ; Fatemeh,Ahmadipour ^[4] ; Goh,Yong Meng ^[5] ; Massoud,Houshmand ^[6]

作者单位： Department of Medical Genetics, Special Medical Center, Tehran, Iran. ^[1] Medical Genetics Department, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ^[2] Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. ^[3] Department of Biochemistry and Molecular & Cellular Biology, School of Medicine, Georgetown University, Washington, DC, USA. ^[4] Department of Pharmacy, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. ^[5] Department of Veterinary Preclinical Sciences, Faculty of Veterinary Medicine, Universiti Putra Malaysia, Selangor, Malaysia. ^[6]

关键词 behavioral disturbances demyelinating gait abnormality and impairment metachromatic leukodystrophy (MLD)psychomotor regression

DOI 10.2147/TCRM.S119967

PMID 28670130

发布时间 2020-09-30

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Therapeutics and clinical risk management

2017年13卷

725-731页

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Four novel <i>ARSA</i> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.

Therapeutics and clinical risk management

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Therapeutics and clinical risk management

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Four novel <i>ARSA</i> gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations.

Therapeutics and clinical risk management

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Therapeutics and clinical risk management

相关期刊

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