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

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...

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Detalles Bibliográficos
Autores principales: Golchin, Neda, Hajjari, Mohammadreza, Malamiri, Reza Azizi, Aminzadeh, Majid, Mohammadi-asl, Javad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2017
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738620/
https://www.ncbi.nlm.nih.gov/pubmed/29111560
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0110

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738620/
https://www.ncbi.nlm.nih.gov/pubmed/29111560
http://dx.doi.org/10.1590/1678-4685-GMB-2016-0110

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