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Article

Characterization of three alleles causing aspartylglycosaminuria: two from a British family and one from an American patient.

The Biochemical journal - 15 Mar 1993

Park H, Vettese M B, Fensom A H, Fisher K J, Aronson N N

Abstract excerpt

Aspartylglycosaminuria (AGU) is a lysosomal storage disease principally occurring in Finland that results from mutations in the structural gene for glycosylasparaginase (AGU). This work characterizes the inheritance of two previously reported AGU mutations in a British patient [Ikonen, Aula, Grön, Tollersrud, Halila, Manninen, Syvänen and Peltonen (1991) Proc. Natl. Acad. Sci. U.S.A. 88, 11222-11226]. Use of the...

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Identifiers

PMID: 8457202
DOI: 10.1042/bj2900735
PMCID: PMC1132342

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