RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.

@article{Zimran1994RecTLAC,
  title={RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.},
  author={Ari Zimran and Mia Horowitz},
  journal={American journal of medical genetics},
  year={1994},
  volume={50 1},
  pages={74-8}
}
We describe 4 Jewish patients with type 1 Gaucher disease and the genotype N370S/recTL. They present either asymptomatic or mild Gaucher disease. RecTL is a complex allele that contains 4 single point mutations in the glucocerebrosidase gene: D409H, L444P, A456P, and V460V. Since patients who have the genotype N370S/L444P usually develop a moderate to severe course of Gaucher disease, and those who are homozygous for the D409H or the L444P mutations develop aggressive disease accompanied by… CONTINUE READING