title: A novel FUCA1 mutation causing fucosidosis in a Chinese boy.
abstract: We report a 6-year-old boy with an intermediate form of fucosidosis.
authors.affiliation: Department of Paediatrics, Queen Mary Hospital, The University of Hong Kong, China.
authors.forename: P
authors.initials: P
authors.lastname: Ip
authors.forename: W
authors.initials: W
authors.lastname: Goh
authors.forename: K W
authors.initials: KW
authors.lastname: Chan
authors.forename: P T
authors.initials: PT
authors.lastname: Cheung
mesh_terms: D001483:Base Sequence; D002648:Child; D018389:Codon, Nonsense; D005645:Fucosidosis / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D005644:alpha-L-Fucosidase / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; D005644:alpha-L-Fucosidase