Browsing by Subject Phenotype/genotype

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Issue DateTitleAuthor(s)TypeAccess Type
Feb-2000Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patientsAmaral, O.; Marcão, A.; Sá Miranda, M.; Desnick, R.J.; Grace, M.E.articleopenAccess