Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.

@article{Tang2005NovelMI,
  title={Novel mutations in type 2 Gaucher disease in Chinese and their functional characterization by heterologous expression.},
  author={Nelson Leung-sang Tang and Wei-min Zhang and Gregory A. Grabowski and Ka Fai To and Francis Y. M. Choy and Suk Ling Ma and Hui-ping Shi},
  journal={Human mutation},
  year={2005},
  volume={26 1},
  pages={59-60}
}
We investigated 10 unrelated Chinese patients with type 2 Gaucher disease and performed ex vivo expression for the novel mutations to characterize their functional defects. These patients were diagnosed by enzymatic assays and clinicopathologic features over the past five years in a national centre in China. Genomic DNA was sequenced by a two-stage PCR approach for mutations in the functional GBA gene. Novel mutations were expressed with baculovirus-transfected Sf21 cells. Six novel mutations… CONTINUE READING

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