Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.
Multiple molecular forms of beta-glucocerebrosidase that permit discrimination between neurologic and non-neurologic phenotypes of Gaucher disease have been identified radioimmunologically in fibroblasts and human brain tissue. In normal human fibroblasts these forms have been shown by NaDodSO4/poly...
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| 發表在: | Proc Natl Acad Sci U S A |
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| Principais autores: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
National Academy of Sciences
1982
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC346953/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6957882/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.79.18.5607 |
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