Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"RVCL"”.
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The TREX1 3' Exonuclease and Autoimmune Disease: Structural and Biochemical Analysis of Disease Mutants Involved in Autoimmune Dysfunction
… vasculopathy and cerebral leukodystrophy (RVCL). Several cellular roles have been proposed for TREX1 including degradation of nicked genomic DNA during the granzyme A cell death pathway, disposing of single-stranded DNA aberrant replication intermediates, and degrading DNA derived from …
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Studies on the Mislocalized Exonuclease TREX1 that Causes a Systemic Vasculopathy
<p>Cerebral hereditary angiopathy with vascular retinopathy and impaired other organs caused by TREX1 mutations (CHARIOT) is a rare, autosomal dominant disease of middle-age onset with 100% penetrance that manifests primarily with visual disturbances and neurological symptoms due to small vessel …