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Article

Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties.

Genetic testing - 1 Jan 2000

Qu Y, Miller J B, Desnick R J, Shapira E

Abstract excerpt

Arylsulfatase A (ASA) pseudodeficiency (PD) was described in clinically healthy individuals with ASA-deficient activity. To confirm that the PD individual in the present study is homozygous for the PD allele without any other mutations, direct solid-phase sequencing was done and the two A-to-G transitions--one at the third N-glycosylation site (N350S) and the other at the first polyadenylation signal (ATTAAC to...

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PMID: 10464659
DOI: 10.1089/gte.1997.1.283

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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