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Article

A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.

Biochemical and biophysical research communications - 15 Dec 1992

Yang M, Allen H, DiCioccio R A

Abstract excerpt

Fucosidosis is an autosomal recessive, lysosomal storage disease featured by deficient activity of alpha-L-fucosidase. Lymphoid cell lines from a fucosidosis patient (JT) and a healthy individual (control) contained alpha-L-fucosidase mRNA of the same size, 2.3 Kb, as determined by Northern blot analysis. cDNA was prepared from alpha-L-fucosidase mRNA of JT and control cells and each cDNA was amplified by the...

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PMID: 1281988
DOI: 10.1016/0006-291x(92)92312-l

Genes

GAA

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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