Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

Metachromatic leukodystrophy (MLD) disorder is a rare lysosomal storage disorder that leads to severe neurological symptoms and an early death. MLD occurs due to the deficiency of enzyme arylsulfatase A (ARSA) in leukocytes, and patients with MLD excrete sulfatide in their urine. In this study, the...

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Detalles Bibliográficos
Autores principales: Dehghan Manshadi, Masoumeh, Kamalidehghan, Behnam, Aryani, Omid, Khalili, Elham, Dadgar, Sepideh, Tondar, Mahdi, Ahmadipour, Fatemeh, Yong Meng, Goh, Houshmand, Massoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2017
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482404/
https://www.ncbi.nlm.nih.gov/pubmed/28670130
http://dx.doi.org/10.2147/TCRM.S119967

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