Article
WRN protein as a novel erythroblast immunohistochemical marker with applications for the diagnosis of Werner syndrome.
Virchows Archiv : an international journal of pathology - 1 Mar 2015
Sadahira Yoshito, Sugihara Takashi, Fujiwara Hideyo, Nishimura Hirotake, Suetsugu Yoshimasa, Takeshita Morishige, Okamura Seiichi, Goto Makoto
Abstract excerpt
Genetic testing for mutations in the WRN gene is critical for the diagnosis of Werner syndrome (WS); however, these tests cannot be performed in a clinical setting. Nearly all of the WRN mutations result in expression of truncated WRN proteins that are missing the C-terminal nuclear localization signal. We evaluated the use of WRN protein immunohistochemistry for diagnosing WS using paraffin-embedded bone marrow...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.