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A missense mutation found in patients with MCAD deficiency inactivates an exonic splicing enhancer in the MCAD gene
Research output: Contribution to conference › Poster › Research
- Karsten Bork Nielsen, Denmark
- Thayline Sinnathamby
- Luca Cartegni, Cold Spring Harbor Lab., United States
- Thomas Juhl Corydon
- Jørgen Kjems
- Adrain R Krainer, Cold Spring Harbor Lab., United States
- Orly Elpeleg, Metabolic Disease Unit, Hadassah Hebrew University Medical Center, Israel
- Niels Gregersen
- Brage Storstein Andresen, Denmark
- Department of Human Genetics
- Department of Medical Microbiology and Immunology
- Research Unit for Molecular Medicine
- Department of Molecular Biology
| Translated title of the contribution | En missense mutation fundet i patienter med MCAD mangel inaktivere en exon splicing enhancer i MCAD genet |
|---|---|
| Original language | English |
| Publication year | 2003 |
| Publication status | Published - 2003 |
| Event | Annual Meeting of the RNA society - Wien Duration: 1 Jul 2003 → 6 Jul 2003 Conference number: 8th |
Conference
| Conference | Annual Meeting of the RNA society |
|---|---|
| Number | 8th |
| City | Wien |
| Period | 01/07/2003 → 06/07/2003 |
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ID: 3454830