Am J Hum Genet. 1977 Mar;29(2):184-90.

Nature of the mutation in adult beta-galactosidase deficient patients.

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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PMCID:: PMC1685254

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