REFERENCES
- Kelly DP, Kim J-JA, Billadello JJ, et al. Nucleo-tide sequence of medium-chain acyl-CoA dehy-drogenase mRNA and its expression in enzyme-deficient human tissue. Proc Natl Acad Sci USA 1987; 84: 4068–72.
- Gregersen N, Blakemore A, Winter V, et al. Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene. Clin Chim Acta 1991; 203: 23–34.
- Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K. 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. Am J Hum Genet 1991; 49: 1280–91.
- Bross P, Jespersen C, Jensen TG, et al. Effects of two mutations detected in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. J Biol Chem 1995; 270: 10284–90.
- Bross P, Andresen BS, Gregersen N. Impaired folding and subunit assembly as disease mechan-ism: the example of medium-chain acyl-CoA dehydrogenase deficiency. Prog Nucl Acid Res Mol Biol 1998; 58: 301–37.
- Gregersen N, Winter V, Curtis D, et al. Medium-chain acyl-CoA dehydrogenase (MCAD) defi-ciency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from north-western Europe. Hum Hered 1993; 43: 342–50.
- Tanaka K, Gregersen N, Ribes A, et al. A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey and Japan for the G985 variant allele with haplotype analysis at the medium-chain acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration. Pediatr Res 1997; 41: 201–9.
- Walsh PS, Metzger DA, Higuchi R. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. Bio-Techn 1991; 10: 506–13.
- Iitiä A, Mikola M, Gregersen N, et al. Detection of a point mutation using short oligonucleotide probes in allele-specific hybridization. BioTechn 1994; 17: 566–73.
- Miller ME, Brooks JG, Forbes N, Insel R. Frequency of medium-chain acyl-CoA dehydro-genase deficiency G-985 mutation in sudden infant death syndrome. Pediatr Res 1992; 31: 305 —7.
- Andresen BS, Bross P, Udvari S, et al. The molecular basis of medium-chain acyl-CoA dehy-drogenase (MCAD) deficiency in compound heterozygous patients: is there a correlation between genotype and phenotype? Hum Mol Gen 1997; 6: 695–707.