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Article

Mutation identification and characterization of a Taiwanese patient with fucosidosis.

Journal of human genetics - 1 Jan 2007

Lin Shuan-Pei, Chang Jui-Hung, de la Cadena Maria Paez, Chang Ting-Fang, Lee-Chen Guey-Jen

Abstract excerpt

Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with fucosidosis. Upon expressing in COS-7 cells, 97.4% of alpha-L: -fucosidase activity compared with...

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Identifiers

PMID: 17427030
DOI: 10.1007/s10038-007-0136-3

Genes

FUCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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