Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

Lignende værker

• Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
  af: Ding, J H, et al.
  Udgivet: (1992)
• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
  af: Van Hove, J L, et al.
  Udgivet: (1993)
• Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
  af: Pugliese, Michael, et al.
  Udgivet: (2020)
• 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)
  af: Andresen, Brage Storstein, et al.
  Udgivet: (1993)
• Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.
  af: Zhang, Z, et al.
  Udgivet: (1993)