The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

@article{Moat2004TheMB,
  title={The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.},
  author={Stuart J. Moat and Liming Bao and Brian E. Fowler and James Robert Bonham and John H. Walter and Jan P Kraus},
  journal={Human mutation},
  year={2004},
  volume={23 2},
  pages={206}
}
The molecular basis of cystathionine beta-synthase (CBS) deficiency has been studied in 536 patient alleles with 130 different mutations described. To date, no study has reported on the incidence of any of the reported mutations in patients from the UK and the US. We developed a new antisense oligonucleotide (ASO) PCR/hybridization method to screen for 12 of the most frequent CBS mutations in 14 unrelated patients from the UK and 38 unrelated patients from the US, a total of 104 independent… CONTINUE READING

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