Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

作者： Serena Catarzi , Anna Caciotti , Janita Thusberg , Rodolfo Tonin , Sabrina Malvagia

DOI: 10.1155/2013/625824

关键词: Acyl CoA dehydrogenase 、 Allele 、 Missense mutation 、 Genetic testing 、 ACADM 、 Biology 、 MCADD 、 Genetics 、 Newborn screening 、 Mutation

摘要: … Val119 is located in an alpha helix further away from the catalytic site. The p.Val119Asp mutation likely destabilizes the protein structure, because the wild-type residue is hydrophobic …

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Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

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Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies

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