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

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. (Gly16Arg) in SLC...

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Detalles Bibliográficos
Autores principales:	Sabry, Sahar, Eissa, Noura R., Zaki, Maha S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108535/ https://www.ncbi.nlm.nih.gov/pubmed/37069668 http://dx.doi.org/10.1186/s13104-023-06314-1

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