A novel RNASEH2B splice site mutation re
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Elsebet Ostergaard; Frodi Joensen; Karin Sundberg; Morten Duno; Flemming J Hanse
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Article
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2012
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John Wiley and Sons
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English
⚖ 205 KB
## Abstract **Aim:** The aim of the study was to identify the genetic background for Aicardi–Goutieres syndrome (AGS) in the Faroe Islands. **Methods:** Four patients with AGS were identified. The patients had a variable phenotype, from a severe prenatal form with intrauterine foetal death to a mi