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The nature of mutation in Krabbe disease.
Galactosylceramide beta-galactosidase cross reacting material was demonstrated in brain, liver, and skin fibroblasts from patients with Krabbe disease. The mutant enzyme was antigenically identical to the normal enzyme and exhibited similar electrophoretic mobility. Normal quantities of the catalyti...
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| Главные авторы: | , , |
|---|---|
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
1978
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1685874/ https://ncbi.nlm.nih.gov/pubmed/85413 |
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