Article

Fucosidosis in Tunisians patients: Mutational analysis and homology-based modeling of FUCA1 enzyme

2021-02-23

Abstract excerpt

<h4>Background: </h4> Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase (FUCA1) activity, leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. <h4>Methods: </h4>: All exons...

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Literature Corpus work: f350de76-d1a1-52ea-97ab-25330df13929
DOI: 10.21203/rs.3.rs-228088/v1

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