Two novel missense mutations in the cystathionine β-synthase gene in homocystinuric patients

@article{Kluijtmans2004TwoNM,
  title={Two novel missense mutations in the cystathionine $\beta$-synthase gene in homocystinuric patients},
  author={Leo A. J. Kluijtmans and Henk J Blom and Godfried H. J. Boers and Bernard A. van Oost and Frans J. M. Trijbels and Lambert P. Heuvel},
  journal={Human Genetics},
  year={2004},
  volume={96},
  pages={249-250}
}
Direct sequencing of the coding region of the cystathionine β-synthase (CBS) gene in two homocystinuric patients revealed the presence of two novel missense mutations. The first mutation, a 1111G → A transition, resulted in the substitution of the evolutionary conserved valine-371 by a methionine residue (V371M) and created a new NlaIII restriction site. The second mutation, a G→A transition at base-pair 494, resulted in an amino acid change from cysteine to tyrosine (C165Y) and abolished a… Expand
8 Citations
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