[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous].

@article{Cherif2007MutationSO,
  title={[Mutation spectrum of Gaucher disease in Tunisia: high frequency of N370S/Rec NciI compound heterozygous].},
  author={Wafa Cherif and Hathemi Ben Turkia and N{\'e}ji Tebib and Olga Amaral and Faten Ben Rhouma and Mohamed Slim Abdelmoula and Hatem Azzouz and Catherine Caillaud and M-C S{\`a} Miranda and Sonia Abdelhak and M-F Ben Dridi},
  journal={Archives de l'Institut Pasteur de Tunis},
  year={2007},
  volume={84 1-4},
  pages={65-70}
}
Gaucher disease is the most common lysosomal storage disorder, it results from the inherited deficiency of the enzyme glucocerebrosidase, the accumulation of its substrate causes many clinical manifestations. Since the discovery of GBA gene, more than 200 different mutations have been identified, but only handful mutations are recurrent (N370S, L444P and c… CONTINUE READING