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...
| Published in: | BMC Research Notes |
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| Main Authors: | , , |
| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-04-01
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| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13104-023-06314-1 |