NATURE OF MUTATION IN KRABBE DISEASE
- 1 January 1978
- journal article
- research article
- Vol. 30 (6) , 644-652
Abstract
Galactosylceramide .beta.-galactosidase cross reacting material was demonstrated in brain, liver and skin fibroblasts from [human] 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 the structural gene for the enzyme protein.This publication has 20 references indexed in Scilit:
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