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Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu→Lys, p.318Trp→Cys) arylsulfatase A mutations
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by Arylsulfatase A (ASA) deficiency. The hallmark of the disease is central and peripheral neurodegeneration. More than 200 mutations have been identified in ARSA gene so far. Some of these mutations were characterized. The aim...
Enregistré dans:
| Publié dans: | Intractable Rare Dis Res |
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| Auteurs principaux: | , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5116864/ https://ncbi.nlm.nih.gov/pubmed/27904824 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01085 |
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