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介绍最近２０年间对高雪氏病病因、诊断和治疗等的研究进展。已发现了引起高雪氏病的基因突变位点。预后不佳的高雪氏病将随着基因转移疗法的研究成功而被攻克。
The recent 20 years on the cause of Gaucher disease, diagnosis and treatment of research progress. Gene mutation sites have been found to cause Gaucher disease. Poor prognosis of Gaucher disease will be overcome with the success of gene transfer therapy research.