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. 1978 Nov;30(6):644–652.

The nature of mutation in Krabbe disease.

Y Ben-Yoseph, M Hungerford, H L Nadler
PMCID: PMC1685874  PMID: 85413

Abstract

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 catalytically deficient enzyme were measured in the patients' tissues by a sensitive single radial immunodiffusion assay, indicating that the mutation is in structural gene for the enzyme protein.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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