Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.

@article{Matsubara1990IdentificationOA,
  title={Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.},
  author={Yumiko Matsubara and Kuniaki Narisawa and Shigeaki Miyabayashi and Keiya Tada and Paul M. Coates and Claude Bachmann and Louis J. Elsas and Rodney J. Pollitt and William James Rhead and Charles R. Roe},
  journal={Biochemical and biophysical research communications},
  year={1990},
  volume={171 1},
  pages={498-505}
}
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common recessively inherited metabolic diseases in man. We have studied fibroblast cultures obtained from three patients with MCAD deficiency by sequencing the entire coding region of MCAD mRNA. A single A to G nucleotide replacement which resulted in lysine329-to-glutamic acid329 substitution of the MCAD protein was identified in all cultures. Furthermore, this point mutation was present in 91% (31 of 34) of mutant MCAD… CONTINUE READING

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