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A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.
Suchanowska A, Kaczmarek R, Duk M, Lukasiewicz J, Smolarek D, Majorczyk E, Jaskiewicz E, Laskowska A, Wasniowska K, Grodecka M, Lisowska E, Czerwinski M. Suchanowska A, et al. Among authors: majorczyk e. J Biol Chem. 2012 Nov 2;287(45):38220-30. doi: 10.1074/jbc.M112.408286. Epub 2012 Sep 10. J Biol Chem. 2012. PMID: 22965229 Free PMC article.
Molecular characterization of the Fy(a-b-) phenotype in a Polish family.
Karolak E, Grodecka M, Suchanowska A, Klausa E, Bochenek S, Majorczyk E, Czerwiński M, Waśniowska K. Karolak E, et al. Among authors: majorczyk e. Transfus Apher Sci. 2013 Oct;49(2):313-7. doi: 10.1016/j.transci.2013.06.006. Epub 2013 Jun 29. Transfus Apher Sci. 2013. PMID: 23820435 Clinical Trial.
52 results