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Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations

Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive lysosomal storage disease. The disease is primarily caused by a deficiency in the enzyme arylsulfatase A (ASA), which is encoded by the ARSA gene. A total of 254 mutations have been reported in different populations. The present s...

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Detalles Bibliográficos
Autores principales: Wang, Yangyang, Chen, Xiang, Liu, Chan, Wu, Shamin, Xie, Qingfeng, Hu, Quan, Chen, Shan, Liu, Yiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6676083/
https://www.ncbi.nlm.nih.gov/pubmed/31410132
http://dx.doi.org/10.3892/etm.2019.7760