Article
Disease associations and altered immune function in CD45 138G variant carriers.
Human molecular genetics - 15 Oct 2004
Boxall Sally, Stanton Tara, Hirai Kouzo, Ward Victoria, Yasui Tomoyo, Tahara Hideki, Tamori Akihiro, Nishiguchi Shuhei, Shiomi Susumu, Ishiko Osamu, Inaba Masaaki, Nishizawa Yoshiki, Dawes Ritu, Bodmer Walter, Beverley Peter C L, Tchilian Elma Z
Abstract excerpt
The CD45 antigen is a haemopoietic cell specific tyrosine phosphatase essential for antigen receptor mediated signalling in lymphocytes. Expression of different patterns of alternatively spliced CD45 isoforms is associated with distinct functions. We recently identified a polymorphism in exon 6 (A138G) of the gene encoding CD45 (PTPRC) that results in altered CD45 splicing. The 138G allele is present at a high...
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