A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

Lignende værker

• A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
  af: Dessein, Anne-Frédérique, et al.
  Udgivet: (2010)
• Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T
  af: Drendel, Holli M., et al.
  Udgivet: (2015)
• Intragenic Deletions and Salivary Band Relationships in Drosophila
  af: Welshons, W. J., et al.
  Udgivet: (1975)
• A birth of bipartite exon by intragenic deletion
  af: Nozu, Kandai, et al.
  Udgivet: (2017)
• 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
  af: Andresen, Brage Storstein, et al.
  Udgivet: (2001)