| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833789 | Molecular Genetics and Metabolism | 2012 | 4 Pages |
Abstract
⺠We perform RNA based mutation analysis for CPS1 using stimulated lymphocytes. ⺠The method described does substantially shorten the time to diagnosis. ⺠RNA investigations are important to understand the relevance of DNA changes. ⺠CPS1 transcript variants were found to occur with tissue-specific frequency. ⺠We describe 7 novel CPS1 mutations.
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Authors
Rita Kretz, Liyan Hu, Véronique Wettstein, Dana Leiteritz, Johannes Häberle,