Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
Lysosomal beta-hexosaminidase (EC 3.2.1.52) is composed of two structurally similar chains, alpha and beta, that are the products of different genes. Mutations in either gene causing beta-hexosaminidase deficiency result in the lysosomal storage disease GM2-gangliosidosis. To enable the investigatio...
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| Udgivet i: | Proc Natl Acad Sci U S A |
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| Hovedforfatter: | |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
National Academy of Sciences
1988
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC279885/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2964638/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.85.6.1883 |
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