title: A missense mutation (S63L) in alpha-L-fucosidase is responsible for fucosidosis in an Italian patient.
authors.affiliation: Department of Neurosciences, University of California at San Diego, La Jolla 92093-0634.
authors.forename: H C
authors.initials: HC
authors.lastname: Seo
authors.forename: M
authors.initials: M
authors.lastname: Yang
authors.forename: R
authors.initials: R
authors.lastname: Tonlorenzi
authors.forename: P J
authors.initials: PJ
authors.lastname: Willems
authors.forename: A H
authors.initials: AH
authors.lastname: Kim
authors.forename: M
authors.initials: M
authors.lastname: Filocamo
authors.forename: R
authors.initials: R
authors.lastname: Gatti
authors.forename: R A
authors.initials: RA
authors.lastname: DiCioccio
authors.forename: J S
authors.initials: JS
authors.lastname: O'Brien
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D005645:Fucosidosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D005644:alpha-L-Fucosidase / Q000235:genetics*
chemical_list: D005644:alpha-L-Fucosidase