An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.

Lignende værker

• Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.
  af: Ohura, T, et al.
  Udgivet: (1989)
• High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA Carboxylase
  af: Ravn, Kirstine, et al.
  Udgivet: (2000)
• Import of TAT-Conjugated Propionyl Coenzyme A Carboxylase Using Models of Propionic Acidemia
  af: Collard, Renata, et al.
  Udgivet: (2018)
• Coding sequence of the precursor of the beta subunit of rat propionyl-CoA carboxylase.
  af: Kraus, J P, et al.
  Udgivet: (1986)
• Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
  af: Rodríguez-Pombo, P, et al.
  Udgivet: (1998)