Genes and immunity, 2003-03, Vol.4 (2), p.168-169
2003
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- Autor(en) / Beteiligte
- Titel
- Enhanced frequency of a PTPRC (CD45) exon A mutation (77C→G) in systemic sclerosis
- Ist Teil von
- Genes and immunity, 2003-03, Vol.4 (2), p.168-169
- Ort / Verlag
- Basingstoke: Nature Publishing Group
- Erscheinungsjahr
- 2003
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- A point mutation in exon A (C to G transversion at position 77) of human PTPRC (CD45) has recently been associated with the development of multiple sclerosis (MS) for at least a subgroup of patients. In the present report, we studied the frequency of the 77C-->G transversion in two other autoimmune diseases namely systemic sclerosis (SSc) and systemic lupus erythematosus (SLE). The mutation was found with significantly enhanced frequency in patients suffering from SSc suggesting that PTPRC could play a role as susceptibility gene not only in MS but also in other autoimmune diseases. Further understanding of the mode of interaction of mutant PTPRC with other susceptibility genes may uncover mechanisms common in various autoimmune disorders.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1466-4879eISSN: 1476-5470DOI: 10.1038/sj.gene.6363894Titel-ID: cdi_proquest_miscellaneous_73078159
- Format
- –
- Schlagworte
- Autoimmune diseases, Biological and medical sciences, Blood & organ donations, CD45 antigen, Exons, Fundamental and applied biological sciences. Psychology, Gene Frequency, Genes, Genetic engineering, Genetic Predisposition to Disease, Humans, Immunology, Leukocyte Common Antigens - genetics, Lupus, Lupus Erythematosus, Systemic - genetics, Microbiology, Multiple sclerosis, Multiple Sclerosis - genetics, Mutation, Phosphatase, Point Mutation, Proteins, Scleroderma, Scleroderma, Systemic - genetics, Systemic lupus erythematosus, Systemic sclerosis, Transversion