Genotype D399N/R463C in a Patient with Type 3 Gaucher Disease Previously Assigned Genotype N370S/R463C |
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| Institution: | 1. College of Agronomy, Hunan Agricultural University, Changsha 410128, China;2. Center for Soybean Research of the State Key Laboratory of Agrobiotechnology and School of Life Sciences, The Chinese University of Hong Kong, Hong Kong Special Administrative Region 999077, China;3. Hunan Provincial Key Laboratory of Crop Germplasm Innovation and Utilization, Hunan Agricultural University, Changsha 410128, China |
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| Abstract: | A patient with type 3 Gaucher disease is described with a novel genotype, D399N/R463C, established by DNA sequencing. This patient was previously reported as having genotype N370S/R463C. This communication now establishes that no patients reported with mutation N370S have the neuronopathic forms of Gaucher disease and has important implications for genetic counseling. |
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