Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG

Congenital Disorders of Glycosylation (CDG) are multisystemic metabolic disorders showing highly heterogeneous clinical presentation, molecular etiology, and laboratory results. Here, we present different transferrin isoform patterns (obtained by isoelectric focusing) from three female patients harb...

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Detalles Bibliográficos
Autores principales: Mitusińska, Karolina, Góra, Artur, Bogdańska, Anna, Rożdżyńska-Świątkowska, Agnieszka, Tylki-Szymańska, Anna, Jezela-Stanek, Aleksandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945535/
https://www.ncbi.nlm.nih.gov/pubmed/35327592
http://dx.doi.org/10.3390/biom12030398

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945535/
https://www.ncbi.nlm.nih.gov/pubmed/35327592
http://dx.doi.org/10.3390/biom12030398

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