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Article

A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity.

Journal of autoimmunity - 1 Feb 2009

Dittmar Manuela, Bischofs Christian, Matheis Nina, Poppe Robert, Kahaly George J

Abstract excerpt

A deficiency in the DNase enzyme, and thereby, a failure to remove DNA from nuclear antigens promotes disease susceptibility to autoimmune disorders. This study examined in patients with autoimmune thyroid disease (AITD) whether a reduced DNase activity is associated with sequence variations in the DNASE1 gene. The study included 18 patients with AITD, their 10 relatives, and 111 unrelated healthy controls. Serum...

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Source

Identifiers

PMID: 19022625
DOI: 10.1016/j.jaut.2008.09.005

Genes

DNASE1

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.

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