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Article

Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.

Journal of child neurology - 1 Jan 2012

Izzotti Alberto, Longobardi Mariagrazia, Cartiglia Cristina, Anzuini Francesco, Arrigo Patrizio, Fazzi Elisa, Orcesi Simona, Piana Roberta La, Pulliero Alessandra

Abstract excerpt

Aicardi-Goutières syndrome is a rare encephalopathy of mutational origin characterized by increased levels of interferon alpha in cerebrospinal fluid. The aim of this study was to explore the influence of different Aicardi-Goutières syndrome genotypes on the clinical course of patients, seeking to identify specific gene expression profiles able to explain Aicardi-Goutières syndrome phenotype differences. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 21862834
DOI: 10.1177/0883073811413582

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