Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression

The majority of Gaucher Disease (GD) cases result from pathologic mutations in the GBA1 gene. A rich mutational spectrum of about 500 identified variants has been recognized. The disease is characterized by phenotypic diversity. Data regarding the genotype-phenotype correlation are scanty and inconc...

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Bibliographic Details
Main Authors: Nevenka Ridova, Sanja Trajkova, Biljana Chonevska, Zlate Stojanoski, Martin Ivanovski, Marija Popova-Labachevska, Simona Stojanovska-Jakimovska, Venko Filipche, Aspazija Sofijanova, Irina Panovska-Stavridis
Format: Article
Language:English
Published: Elsevier 2022-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Gaucher disease
Mutations
Phenotypic profile
Genetic-phenotypic correlations
Macedonian population
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000556

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http://www.sciencedirect.com/science/article/pii/S2214426922000556

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