Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.

@article{Wan2006MutationAO,
  title={Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.},
  author={Lei Wan and Chin-Moo Hsu and Chang-Hai Tsai and Cheng-Chun Lee and Wuh-Liang Hwu and Fuu-Jen Tsai},
  journal={Blood cells, molecules & diseases},
  year={2006},
  volume={36 3},
  pages={422-5}
}
Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree of clinical variability, results from deleterious mutations in the beta-glucosidase gene. Although >200 mutations in the gene for human beta-glucosidase have been described, most genotype/phenotype studies have focused on screening for a few common mutations. In the present study, whole gene sequencing analysis was performed. We sequenced eight patients with type 1, five patients with type 2, and… CONTINUE READING
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