Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

@article{Andresen1994DiseasecausingMI,
  title={Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.},
  author={Brage S Andresen and Tina Gudrun Jensen and Peter Alexander. Bross and Inga Knudsen and Vibeke Winter and Steen K{\o}lvraa and Lars Bolund and Jian Hua Ding and Ying Tsong Chen and Johan Lk Van Hove},
  journal={American journal of human genetics},
  year={1994},
  volume={54 6},
  pages={
          975-88
        }
}
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most commonly recognized defect of the mitochondrial beta-oxidation in humans. It is a potentially fatal, autosomal recessive inherited defect. Most patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985), causing a change from lysine to glutamate at position 304 (K304E) in the mature MCAD. Only seven non-G985 mutations, all of which are rare, have been reported. Because the G985 mutation and three of… CONTINUE READING

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