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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Autores principales: Suchanowska, Anna, Kaczmarek, Radoslaw, Duk, Maria, Lukasiewicz, Jolanta, Smolarek, Dorota, Majorczyk, Edyta, Jaskiewicz, Ewa, Laskowska, Anna, Wasniowska, Kazimiera, Grodecka, Magdalena, Lisowska, Elwira, Czerwinski, Marcin
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2012
Materias:
Glycobiology and Extracellular Matrices
Acceso en línea: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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