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Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.
The lysosomal catabolism of sulfatide requires arylsulfatase A and a specific sphingolipid activator protein, SAP-1. While most patients with metachromatic leukodystrophy have mutations in the gene for arylsulfatase A, some patients have deficient SAP-1, as determined by immunological techniques. We...
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| Main Authors: | , , , |
|---|---|
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
1990
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC53488/ https://ncbi.nlm.nih.gov/pubmed/1689485 |
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