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A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease.
Fibroblasts derived from a beta-hexosaminidase A (HexA)-deficient infant with clinically classic Tay-Sachs disease synthesized a precursor alpha-chain that was smaller than its normal counterpart. Fibroblasts from the infant's parents, who were consanguinous, produced both normal and mutant alp...
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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
1987
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1684151/ https://ncbi.nlm.nih.gov/pubmed/2954459 |
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