A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
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DOI：
10.1038/ng1323
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发表时间：
2004-04-01
期刊：
影响因子：
30.8
通讯作者：
Mustelin, T
中科院分区：
文献类型：
--
作者：
Bottini, N;Musumeci, L;Mustelin, T
We report that a single-nucleotide polymorphism ( SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue involved in association of LYP with the negative regulatory kinase Csk. Unlike the variant encoded by the more common allele 1858C, the variant associated with T1D does not bind Csk.
