The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
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| Description | scientific article |
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author: Rugivan Sabaratnam Brage Storstein Andresen Rikke K. Olsen Sabrina Brøner Thomas Koed Doktor |
| Publication date | October 28, 2013 |
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