Nature of the mutation in adult beta-galactosidase deficient patients. |
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Authors: | J S O'Brien and A G Norden |
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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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