Original paper
Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population
Abstract
In the Portuguese population the most frequent form of Gaucher disease is type 1. The N370S glucocerebrosidase gene mutation accounts for 63% of mutated alleles. The frequency of this mutation was accurately determined in the Portuguese population, which does not present an Ashkenazi Jewish genetic background. A gene frequency of 0.0043, with 95% confidence limits between 0.0023 and 0.0063, was obtained studying the genomic DNA of 2000 blood...
Paper Details
Title
Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population
Published Date
Jun 1, 1994
Journal
Volume
45
Issue
6
Pages
298 - 300
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Notes
History