Article
TCRBV20S1 polymorphism does not influence the susceptibility to type 1 diabetes and multiple sclerosis in the Sardinian population.
Immunogenetics - 1 Feb 2012
Fozza Claudio, Zoledzieska Magdalena, Pitzalis Maristella, Simula Maria Pina, Galleu Antonio, Contini Salvatore, Bonfigli Silvana, Cucca Francesco, Longinotti Maurizio
Abstract excerpt
Among the different T-cell receptor (TCR) BV20S1 polymorphisms, nucleotide substitution at position 524 results in the introduction of a stop codon, whose potential functional relevance is still unknown. We have recently showed in Sardinian subjects the most elevated allele frequency ever reported worldwide for this "null allele" (0.44). As this variant generates a gap in the TCR repertoire, this preliminary...
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