Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site.
Metachromatic leukodystrophy is a metabolic disorder caused by the deficiency of arylsulfatase A. Deficiency of this enzyme is also found in apparently healthy individuals, a condition for which the term pseudodeficiency was introduced. The arylsulfatase A (cerebroside-3-sulfate 3-sulfohydrolase; EC...
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| Publicado en: | Proc Natl Acad Sci U S A |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
National Academy of Sciences
1989
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298511/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2574462/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.23.9436 |
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