Original paper
A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity
Abstract
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 DNase activity was determined...
Paper Details
Title
A novel mutation in the DNASE1 gene is related with protein instability and decreased enzyme activity in thyroid autoimmunity
Published Date
Feb 1, 2009
Journal
Volume
32
Issue
1
Pages
7 - 13
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Notes
History