A Single Point Mutation in the Gene Encoding Gb3/CD77 Synthase Causes a Rare Inherited Polyagglutination Syndrome

Rare polyagglutinable NOR erythrocytes contain three unique globoside (Gb4Cer) derivatives, NOR1, NOR(int), and NOR2, in which Gal(α1–4), GalNAc(β1–3)Gal(α1–4), and Gal(α1–4)GalNAc(β1–3)Gal(α1–4), respectively, are linked to the terminal GalNAc residue of Gb4Cer. NOR1 and NOR2, which both terminate...

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Détails bibliographiques
Auteurs principaux: Suchanowska, Anna, Kaczmarek, Radoslaw, Duk, Maria, Lukasiewicz, Jolanta, Smolarek, Dorota, Majorczyk, Edyta, Jaskiewicz, Ewa, Laskowska, Anna, Wasniowska, Kazimiera, Grodecka, Magdalena, Lisowska, Elwira, Czerwinski, Marcin
Format: Artigo
Langue:Inglês
Publié: American Society for Biochemistry and Molecular Biology 2012
Sujets:
Glycobiology and Extracellular Matrices
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3488091/
https://ncbi.nlm.nih.gov/pubmed/22965229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.408286
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