Nature of the mutation in adult beta-galactosidase deficient patients
- PMID: 322478
- PMCID: PMC1685254
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Nature of the mutation in adult beta-galactosidase deficient patients
Am J Hum Genet.
1977 Mar.
Abstract
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.
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