Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.
Sandhoff disease is a recessively inherited lysosomal storage disease resulting from a deficiency of beta-hexosaminidase activity. The enzyme occurs in two major forms, beta-hexosaminidase A, composed of an alpha- and beta-subunit and beta-hexosaminidase B, composed of two beta-subunits. Both isozym...
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| Publicado no: | J Clin Invest |
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| Principais autores: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
1990
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296899/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2147027/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114871 |
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