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Article

A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.

American journal of human genetics - 1 May 1992

Xie B, Wang W, Mahuran D J

Abstract excerpt

The AB-variant form of GM2 gangliosidosis is an inherited lysosomal storage disease. Biochemical data have linked its cause to the lack of a functional GM2 activator protein (activator). In the present study we identify a mutation in the gene encoding the activator protein of an AB-variant patient. These data represent direct evidence that the disease in the patient described here is a result of mutations at the...

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Identifiers

PMID: 1570834
PMCID: PMC1682593

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