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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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Bibliografiske detaljer
Main Authors: 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
Sprog:Inglês
Udgivet: American Society for Biochemistry and Molecular Biology 2012
Fag:
Online adgang: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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