β‐Galactosidase deficiency in an adult: A biochemical and somatic cell genetic study on a variant of GM1‐gangIiosidosis
Authors:
- 23 April 1976
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 9 (4) , 427-432
Abstract
Biochemical data are presented of a 29‐year‐old male, who shows progressive psychomotor retardation and a β‐galactosidase deficiency in leucocytes and cultured skin fibroblasts. Somatic cell hybridization studies show that this variant of GM1‐gangliosidosis is based on a different gene mutation than is present in types 1 and 2. No complementation is observed in fusion experiments with cells from type 3 variant.Keywords
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