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Ing. Kateřina Homolová
External person at First Faculty of Medicine
1 publication
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The Deep Intronic c.903+469T > C Mutation in the MTRR Gene Creates an SF2/ASF Binding Exonic Splicing Enhancer, Which Leads to Pseudoexon Activation and Causes the cbIE Type of Homocystinuria
2010 |
First Faculty of Medicine
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