Nature of the mutation in adult beta-galactosidase deficient patients.
Fibroblasts from three chronically affected, beta-galactosidase deficient adults were shown to synthesize nearly normal quantities of immunologically reactive catalytically deficient beta-galactosidase, indicating that they are CRM + structural mutants.
D000328:Adult; D005260:Female; D005696:Galactosidases / Q000172:deficiency* / Q000276:immunology; D005732:Gangliosides; D005796:Genes; D006801:Humans; D007124:Immunoenzyme Techniques; D066298:In Vitro Techniques; D008297:Male; D008968:Molecular Conformation; D009154:Mutation
D005732:Gangliosides; D005696:Galactosidases