Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.
摘要：
Alleles ; Antibodies/pharmacology ; Autoimmune Diseases/enzymology/genetics/immunology ; Catalysis ; Diabetes Mellitus, Type 1/enzymology/genetics/immunology ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Interleukin-2/metabolism ; Italy ; Lymphocyte Activation ; Male ; Mutation ; Polymorphism, Single Nucleotide ; Protein Tyrosine Phosphatase, Non-Receptor Type 1 ; Protein Tyrosine Phosphatase, Non-Receptor Type 22 ; Protein Tyrosine Phosphatases/genetics ; Receptors, Antigen, T-Cell/drug effects/metabolism ; T-Lymphocytes/enzymology/immunology
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关键词：
Alleles Antibodies/pharmacology Autoimmune Diseases/enzymology/genetics/immunology Catalysis Diabetes Mellitus, Type 1/enzymology/genetics/immunology Female Gene Frequency Genetic Predisposition to Disease Heterozygote Humans
DOI：
10.1038/ng1673
被引量：
年份：
2005
Springer
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