Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model

Novel insight into FCSK‐congenital disorder of glycosylation through a CRISPR‐generated cell model

Abstract Background FCSK‐congenital disorder of glycosylation (FCSK‐CDG) is a recently discovered rare autosomal recessive genetic disorder with defective fucosylation due to mutations in the fucokinase encoding gene, FCSK. Despite the essential role of fucokinase in the fucose salvage pathway and s...

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Bibliografiska uppgifter
Huvudupphovsmän: Maryam Fazelzadeh Haghighi, Hossein Jafari Khamirani, Jafar Fallahi, Ali Arabi Monfared, Korosh Ashrafi Dehkordi, Seyed Mohammad Bagher Tabei
Materialtyp: Artikel
Språk:English
Publicerad: Wiley 2024-05-01
Serie:Molecular Genetics & Genomic Medicine
Ämnen:
congenital disorder of glycosylation
CRISPR/Cas9
FCSK
fucokinase
Länkar:https://doi.org/10.1002/mgg3.2445

Internet

https://doi.org/10.1002/mgg3.2445

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