Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation

Abstract Objective The study of the impact of some inherited defects in glycosylation on the biosynthesis of some lysosomal glycoproteins. Results description: Whole-exome sequencing revealed a homozygous variant; 428G > A; p. (R143K) in SRD5A3 in one patient and a heterozygous one c.46G > A p...

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Bibliografiska uppgifter
Huvudupphovsmän: Sahar Sabry, Noura R. Eissa, Maha S. Zaki
Materialtyp: Artikel
Språk:English
Publicerad: BMC 2023-04-01
Serie:BMC Research Notes
Ämnen:
Congenital disorders of glycosylation
Total leukocytes
Lysosomes
Lysosome-associated membrane
Cystinosin
Cathepsin C
Länkar:https://doi.org/10.1186/s13104-023-06314-1

Internet

https://doi.org/10.1186/s13104-023-06314-1

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