Summary
The mutation N370S accounts for 63% of the mutated glucocerebrosidase alleles of Portuguese type 1 Gaucher patients. It has been shown previously that this mutation is linked to the Pv1.1− form of the PvuII polymorphism and suggested that the N370S mutation in glucocerebrosidase alleles has an Ashkenazi Jewish origin. We have found that in Portuguese type 1 Gaucher patients this mutation is also invariably associated with the Pv1.1− haplotype, despite the fact that there is no evidence of Ashkenazi Jewish background in this population.
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Lacerda, L., Amaral, O., Pinto, R. et al. The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: Linkage to the PvuII polymorphism. J Inherit Metab Dis 17, 85–88 (1994). https://doi.org/10.1007/BF00735401
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DOI: https://doi.org/10.1007/BF00735401