A modified method for the identification of heterozygotes for Gaucher's disease using differential thermal inactivation
- 1 September 1980
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 18 (3), 226-231
- https://doi.org/10.1111/j.1399-0004.1980.tb00877.x
Abstract
Heat inactivation of leukocyte 4-methylumbelliferyl-.beta.-D-glucosidase (EC 3.2.1.21) is useful in identifying heterozygotes for adult (chronic) Gaucher''s disease. The overlap between high heterozygote values and low normal values is reduced by the heat inactivation step, compared to assays without heating; that is from an overlap of 23 to 6%. Although preliminary, results indicate that this procedure may be useful in families with adult (chronic) Gaucher''s disease.Keywords
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