title: Intrafamilial variability in fucosidosis.
abstract: Two families with five patients affected with fucosidosis are described. Within each family, both type I and type II fucosidosis are present. This suggests that environmental factors or "modifying genes" different from the fucosidase structural gene contribute to the phenotype of a fucosidosis patient.
authors.affiliation: Department of Neurosciences, University of California, San Diego.
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
authors.forename: C A
authors.initials: CA
authors.lastname: Garcia
authors.forename: M C
authors.initials: MC
authors.lastname: De Smedt
authors.forename: R
authors.initials: R
authors.lastname: Martin-Jimenez
authors.forename: J K
authors.initials: JK
authors.lastname: Darby
authors.forename: D A
authors.initials: DA
authors.lastname: Duenas
authors.forename: D
authors.initials: D
authors.lastname: Granado-Villar
authors.forename: J S
authors.initials: JS
authors.lastname: O'Brien
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005645:Fucosidosis / Q000235:genetics*; D005796:Genes; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D005644:alpha-L-Fucosidase / Q000235:genetics*
chemical_list: D005644:alpha-L-Fucosidase