Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats.

Ítems similars

• Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
  per: Van Hove, J L, et al.
  Publicat: (1993)
• Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
  per: Ding, J H, et al.
  Publicat: (1992)
• 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)
  per: Andresen, Brage Storstein, et al.
  Publicat: (1993)
• Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
  per: Kelly, D P, et al.
  Publicat: (1990)
• Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review
  per: Pugliese, Michael, et al.
  Publicat: (2020)