High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

@article{Maclean2002HighHA,
  title={High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.},
  author={Kenneth N. Maclean and Mette Gaustadnes and Jana Oliveriusov{\'a} and Miroslav Jano{\vs}{\'i}k and Eva H. Kraus and Viktor Ko{\vz}ich and Vladim{\'i}r Kery and Flemming Skovby and Niels R{\"u}diger and J{\o}rgen Ingerslev and Sally P. Stabler and Robert Herman Allen and Jan P Kraus},
  journal={Human mutation},
  year={2002},
  volume={19 6},
  pages={
          641-55
        }
}
Cystathionine beta-synthase (CBS) is a crucial regulator of plasma levels of the thrombogenic amino acid homocysteine (Hcy). Homocystinuria due to CBS deficiency confers a dramatically increased risk of thrombosis. Early diagnosis usually occurs after the observation of ectopia lentis, mental retardation, or characteristic skeletal abnormalities. Homocystinurics with this phenotype typically carry mutations in the catalytic region of the protein that abolish CBS activity. We describe a novel… CONTINUE READING
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