Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.

@article{Cormand1998MolecularAA,
  title={Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.},
  author={Bru Cormand and Daniel Grinberg and Laura Gort and Amparo Chab{\'a}s and Luisa Vilageliu},
  journal={Human mutation},
  year={1998},
  volume={11 4},
  pages={
          295-305
        }
}
Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the lysosomal beta-glucocerebrosidase (GBA) gene. As the disease is particularly prevalent among Ashkenazi Jews, most studies have been carried out on this ethnic group. In the current study, we present a mutation analysis of the GBA gene in Spanish patients together with the clinical findings. We conducted a systematic analysis in 53 unrelated GD patients. The GBA gene was initially scanned for nine previously… CONTINUE READING
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Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

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