rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype

Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is the third major locus affecting risk of type I diabetes (T1D), after HLA-DR/DQ and INS. The most associated single-nucleotide polymorphism (SNP), rs2476601, has a C->T variant and results in an arginine (R) to tryptophan (W) amino acid...

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Autors principals: Steck, AK, Baschal, EE, Jasinski, JM, Boehm, BO, Bottini, N, Concannon, P, Julier, C, Morahan, G, Noble, JA, Polychronakos, C, She, JX, Eisenbarth, GS
Format: Artigo
Idioma:Inglês
Publicat: 2009
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2805459/
https://ncbi.nlm.nih.gov/pubmed/19956096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gene.2009.87
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