Table S1 - Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants
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Literature research and in silico analysis of missense and nonsense mutations of this cohort. The clinical situation of the patients with the described missense and nonsense mutations was categorized as following: The patient was affected if there were any clinical symptoms in the past in patients carrying the mutation in question; the patient was characterized as carrier, if no clinical symptoms occurred so far. Mutations were denoted as novel mutation, if they were not described in the literature so far. (DOC)
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2015-12-02



