Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease

Gaucher disease (GD) is a rare autosomal recessive disorder caused mainly by mutations in the glucocerebrosidase ( GBA) gene. Great phenotypic variability has been observed among patients with the same genotype, suggesting other factors, such as polymorphic variants, might influence GD phenotypes. W...

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Veröffentlicht in:	Clinica chimica acta 2011-01, Vol.412 (3), p.365-369
Hauptverfasser:	Alfonso, Pilar, Pampín, Sandra, García-Rodríguez, Beatriz, Tejedor, Teresa, Domínguez, Carmen, Rodríguez-Rey, Jose C., Giraldo, Pilar, Pocoví, Miguel
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Child, Preschool Female Functional studies Gaucher disease Gaucher Disease - enzymology Gaucher Disease - genetics GBA promoter Glucosylceramidase - genetics Humans Male Middle Aged Phenotype Polymorphism, Genetic - genetics Promoter Regions, Genetic - genetics
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