A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
The molecular diagnosis of Gaucher disease has been difficult due to the existence of several different point mutations in the glucocerebrosidase gene and due to the presence of a tightly linked, highly homologous pseudogene. We now report the occurrence of a "Lepore-like" glucocerebrosidase fusion...
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| Publicado en: | J Clin Invest |
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| Autores principales: | , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
American Society for Clinical Investigation
1990
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296408/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2295698/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114415 |
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