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Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 5, pp. 426 - 429
Journal Article
Plos Genetics, ISSN 1553-7404, 2011, Volume 7, Issue 7, pp. e1002178 - e1002178
Journal Article
Journal of Autoimmunity, ISSN 0896-8411, 2010, Volume 34, Issue 2, pp. 155 - 162
Abstract Objective Genetic studies in the systemic sclerosis (SSc), an autoimmune disease that clinically manifests with dermal and internal organ fibrosis and... 
Allergy and Immunology | BLK | C8orf13 | Systemic sclerosis/SSc | Polymorphism/SNP | Autoantibody | rs13277113 | Genetics | Scleroderma | rs2736340 | Anti-Topoisomerase I | Anti-centromere | ACTIVATION | CHROMOSOMAL LOCALIZATION | LUPUS-ERYTHEMATOSUS | IMMUNOLOGY | TYROSINE KINASE GENE | PATHOGENESIS | PERIPHERAL-BLOOD CELLS | MOLECULAR-CLONING | EXPRESSION | Scleroderma, Systemic - blood | United States | Autoantibodies - blood | Humans | Male | NF-kappa B - metabolism | Gene Expression Profiling | Receptors, Antigen, B-Cell - metabolism | Case-Control Studies | Signal Transduction - immunology | Scleroderma, Systemic - physiopathology | Lupus Erythematosus, Systemic - immunology | Female | Genetic Predisposition to Disease | Genetic Association Studies | Scleroderma, Systemic - genetics | European Continental Ancestry Group | Genotype | Chromosomes, Human, Pair 8 | Signal Transduction - genetics | Scleroderma, Systemic - immunology | src-Family Kinases - immunology | Spain | Autoantibodies - immunology | NF-kappa B - genetics | Centromere - immunology | Lupus Erythematosus, Systemic - genetics | Receptors, Antigen, B-Cell - genetics | Polymorphism, Single Nucleotide | Lupus Erythematosus, Systemic - physiopathology | src-Family Kinases - genetics | Prevention | Tyrosine | Lupus | Immunogenetics | Systemic lupus erythematosus | Cancer | SSc | Systemic Sclerosis | Anti- Topoisomerase-I | Anti-Centromere | SNP | Polymorphism
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2012, Volume 21, Issue 12, pp. 2825 - 2835
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2012, Volume 21, Issue 4, pp. 926 - 933
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 04/2010, Volume 69, Issue 4, pp. 700 - 705
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 03/2011, Volume 70, Issue 3, pp. 454 - 462
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 12/2013, Volume 72, Issue 12, pp. 2032 - 2038
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 04/2013, Volume 72, Issue 4, pp. 602 - 607
Journal Article
Lupus, ISSN 0961-2033, 10/2011, Volume 20, Issue 11, pp. 1126 - 1134
Homozygous deficiencies of early components for complement activation are among the strongest genetic risk factors for human systemic lupus erythematosus... 
non-sense mutation | rare causal variants | systemic lupus erythematosus | complement C1r |