Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

@article{Diaz2000GaucherDT,
  title={Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.},
  author={George A Diaz and Bruce D Gelb and Neil J. Risch and Torbjoern G. Nygaard and Arthur W. Frisch and Ian Joseph Cohen and Clara S{\'a} Miranda and Olga Amaral and Ir{\`e}ne Maire and L. Mucci Poenaru and Catherine Caillaud and M Weizberg and Pratibha Mistry and Robert J Desnick},
  journal={American journal of human genetics},
  year={2000},
  volume={66 6},
  pages={
          1821-32
        }
}
Type 1 Gaucher disease (GD), a non-neuronopathic lysosomal storage disorder, results from the deficient activity of acid beta-glucosidase (GBA). Type 1 disease is panethnic but is more prevalent in individuals of Ashkenazi Jewish (AJ) descent. Of the causative GBA mutations, N370S is particularly frequent in the AJ population, (q approximately .03), whereas the 84GG insertion (q approximately .003) occurs exclusively in the Ashkenazim. To investigate the genetic history of these mutations in… CONTINUE READING

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