Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency

Antzeko izenburuak

• A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)
  nork: Andresen, Brage Storstein, et al.
  Argitaratua: (1993)
• Disease-causing Mutations in Exon 11 of the Medium-Chain Acyl-CoA Dehydrogenase Gene
  nork: Andresen, Brage Storstein, et al.
  Argitaratua: (1994)
• Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer
  nork: Nielsen, Karsten Bork, et al.
  Argitaratua: (2007)
• Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
  nork: Ding, J H, et al.
  Argitaratua: (1992)
• A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing
  nork: Searle, Claire, et al.
  Argitaratua: (2013)