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Article

Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.

Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1991

Mononen I, Heisterkamp N, Kaartinen V, Williams J C, Yates J R, Griffin P R, Hood L E, Groffen J

Abstract excerpt

Aspartylglycosaminuria is an inherited lysosomal storage disease caused by deficiency of glycoasparaginase (EC 3.5.1.26) and occurs with higher frequency among Finns than other populations. We have purified human glycoasparaginase and determined about 90% of the amino acid sequence of its light subunit and greater than 70% of that of its heavy subunit by Edman degradation and mass spectrometry. Additional...

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Identifiers

PMID: 2011603
DOI: 10.1073/pnas.88.7.2941
PMCID: PMC51356

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Aspartylglycosaminuria in the Finnish population: identification of two point mutations in the heavy chain of glycoasparaginase.PMID 2011603Read ↗

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