beta-Galactosidase deficiency in an adult: a biochemical and somatic cell genetic study on a variant of GM1-gangliosidosis.

Abstract:

:Biochemical data are presented of a 29-year-old male, who shows progressive psychomotor retardation and a beta-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.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Koster JF,Niermeijer MF,Loonen MC,Gajaard H

doi

10.1111/j.1399-0004.1976.tb02272.x

subject

Has Abstract

pub_date

1976-04-01 00:00:00

pages

427-32

issue

4

eissn

0009-9163

issn

1399-0004

journal_volume

9

pub_type

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