Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

@article{Kruger2003CystathionineBD,
  title={Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.},
  author={Warren D Kruger and Liming Wang and K H Jhee and Rani H. Singh and Louis J. Elsas},
  journal={Human mutation},
  year={2003},
  volume={22 6},
  pages={434-41}
}
Cystathionine beta-synthase (CBS) deficiency is a rare autosomal recessive disorder that is the most frequent cause of clinical homocystinuria. Patients not treated in infancy have multi-systems disorders including dislocated lenses, mental deficiency, osteoporosis, premature arteriosclerosis, and thrombosis. In this paper, we examine the relationship of the clinical and biochemical phenotypes with the genotypes of 12 CBS deficient patients from 11 families from the state of Georgia, USA. By… CONTINUE READING

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