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Hereditary heat-labile hexosaminidase B: a variant whose homozygotes synthesize a functional HEX A.
Homozygosity for a mutant allele at the beta-chain locus of hexosaminidase (HEX), resulting in a variant of heat-labile HEX B, is reported for the first time in two healthy children. HEX activity in their sera, leukocytes, and cultured skin fibroblasts is severely deficient when measured on the synt...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1985
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1684534/ https://ncbi.nlm.nih.gov/pubmed/3156493 |
| Oznake: |
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