Amaral, OlgaDuarte, Ana JoanaPinto, EugeniaRibeiro, I.Lopes, LurdesRibeiro, Diogo2014-03-102014-03-102013-10-24http://hdl.handle.net/10400.18/1980Poster publicado em: American Society of Human Genetics 63rd Annual Meeting October 22–26, 2013 Boston: posters/abstracts. Poster_Metabolic Disorders, p. 327.In this work we presented the identification and distribution of genetic variations among the control samples studied. The results obtained with the different samples showed the existence of several polymorphic changes. Polymorphisms in the UGCG gene may interfere with the amount of substrate available for degradation in specific diseases along the same pathway. Thus,the degree of genetic variability might influence the phenotypic expression as well as the lysosomal burden. Conclusion: Assessment of variation in the UGCG gene should be considered, particularly in patients who do not comply with the expected genotype/phenotype correlations.engUGCGGlycosphingolipidGenetic DiseasesGenética HumanaGenetic VariationGaucherDoenças Genéticasconference object