Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme

Abstract Background 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 psychom...

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Bibliographic Details
Main Authors: Latifa Chkioua, Yessine Amri, Chayma Saheli, Ferdawes Fenni, Hela Boudabous, Hadhami Ben Turkia, Taieb Messaoud, Neji Tebib, Sandrine Laradi
Format: Article
Language:English
Published: BMC 2021-08-01
Series:BMC Medical Genomics
Subjects:
Fucosidosis
Alpha-l-fucosidase (FUCA1)
Angiokeratoma
Bioinformatics tool
Mutations
Online Access:https://doi.org/10.1186/s12920-021-01061-3

Internet

https://doi.org/10.1186/s12920-021-01061-3

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