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Article

Enhanced frequency of a PTPRC (CD45) exon A mutation (77C-->G) in systemic sclerosis.

Genes and immunity - 1 Mar 2003

Schwinzer R, Witte T, Hundrieser J, Ehlers S, Momot T, Hunzelmann N, Krieg T, Schmidt R E, Wonigeit K

Abstract excerpt

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...

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Source

Identifiers

PMID: 12618866
DOI: 10.1038/sj.gene.6363894

Genes

PTPRC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Enhanced frequency of a PTPRC (CD45) exon A mutation (77C-->G) in systemic sclerosis.PMID 12618866Read ↗

Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?Semantic proximity Read ↗

A point mutation in PTPRC is associated with the development of multiple sclerosis.Semantic proximity Read ↗

Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population.Semantic proximity Read ↗

A point mutation in CD45 may be associated with an increased risk of HIV-1 infection.Semantic proximity Read ↗

CD45 (PTPRC) as a candidate gene in multiple sclerosis.Semantic proximity Read ↗

No association between systemic sclerosis and C77G polymorphism in the human PTPRC (CD45) gene.Semantic proximity Read ↗

CD45 isoform expression in autoimmune myasthenia gravis.Semantic proximity Read ↗

Functional significance of the 77C --> G polymorphism in the human CD45 gene: enhanced T-cell reactivity by variantly expressed CD45RA isoforms.Semantic proximity Read ↗

A transmembrane protein-tyrosine phosphatase receptor type C (CD45) exon A point mutation (77 C to G) is not associated with the development of type 1 diabetes mellitus in a German population.Semantic proximity Read ↗

CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers.Semantic proximity Read ↗

PTPRC (CD45) variation and disease association studied using single nucleotide polymorphism tagging.Semantic proximity Read ↗

PTPRC (CD45) C77G mutation does not contribute to multiple sclerosis susceptibility in Sardinian patients.Semantic proximity Read ↗

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