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Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
We describe four new mutations in the beta-galactosidase gene. These are the first mutations causing infantile and juvenile GM1-gangliosidosis to be described in American patients. Cell lines from two patients with juvenile and from six patients with infantile GM1-gangliosidosis were analyzed. North...
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| Main Authors: | , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1993
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1682392/ https://ncbi.nlm.nih.gov/pubmed/8213816 |
| Oznake: |
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