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Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
Iduronate sulfatase, the enzyme deficient in Hunter syndrome, can be readily measured in individual hair roots. Samples from Hunter syndrome hemizygotes had activities at or near the limits of detection. Samples from two mothers of Hunter syndrome patients, one an obligate heterozygote, had lower av...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1978
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1685868/ https://ncbi.nlm.nih.gov/pubmed/106723 |
| Oznake: |
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