Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group.
Tay-Sachs disease is an inherited disorder in which the alpha chain of the lysosomal enzyme beta-N-acetylhexosaminidase A bears the mutation. Ashkenazi Jews are found to be carriers for a severe type of Tay-Sachs disease, the classic form, 10 times more frequently than the general population. Ashken...
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| Publicado en: | Proc Natl Acad Sci U S A |
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| Autor Principal: | |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
National Academy of Sciences
1988
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| Acceso en liña: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC280339/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3375249/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.85.11.3955 |
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