Article
Geographical distribution and disease associations of the CD45 exon 6 138G variant.
Immunogenetics - 1 Apr 2006
Ward Victoria, Hennig Branwen J, Hirai Kouzo, Tahara Hideki, Tamori Akihiro, Dawes Ritu, Saito Mineki, Bangham Charles, Stephens Henry, Goldfeld Anne E, Kunachiwa Warunee, Leetrakool Nipapan, Hopkin Julian, Dunstan Sarah, Hill Adrian, Bodmer Walter, Beverley Peter C L, Tchilian Elma Z
Abstract excerpt
CD45 is crucial for normal lymphocyte signalling, and altered CD45 expression has major effects on immune function. Both mice and humans lacking CD45 expression are severely immunodeficient, and single-nucleotide polymorphisms in the CD45 gene that cause altered splicing have been associated with autoimmune and infectious diseases. Recently, we identified an exon 6 A138G polymorphism resulting in an increased...
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