NATURE OF MUTATION IN ADULT BETA-GALACTOSIDASE DEFICIENT PATIENTS
- 1 January 1977
- journal article
- research article
- Vol. 29 (2), 184-190
Abstract
Fibroblasts from 3 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 [cross reacting material] + structural mutants.This publication has 12 references indexed in Scilit:
- Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid β‐galactosidase deficiencyClinical Genetics, 1976
- Molecular genetics of GM1 beta-galactosidase.1975
- GM1 ganglioside beta-galactosidase. A. Purification and studies of the enzyme from human liver.1974
- BETA-GALACTOSIDASE DEFICIENCY IN YOUNG ADULTSThe Lancet, 1974
- Immunological studies of beta galactosidase in normal human liver and in GM1 gangliosidosis.1974
- ANGIOKERATOMA CORPORIS DIFFUSUM AND LYSOSOMAL ENZYME DEFICIENCYThe Lancet, 1974
- Binding of human liver β-galactosidases to plant lectins insolubilized on agaroseBiochemical and Biophysical Research Communications, 1974
- The Mechanism of Activation of Mutant β‐Galactosidase by Specific AntibodiesEuropean Journal of Biochemistry, 1973
- I-Cell Disease: Biochemical StudiesPediatric Research, 1972
- Late infantile systemic lipidosis Major monosialogangliosidosis Delineation of two typesNeurology, 1968