title: A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI.
authors.affiliation: Department of Chemical Pathology, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong, China. ching-wanlam@cuhk.edu.hk
authors.forename: Ching-wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Angel On-kei
authors.initials: AO
authors.lastname: Chan
authors.forename: Chi-kong
authors.initials: CK
authors.lastname: Lai
authors.forename: Wai-hung
authors.initials: WH
authors.lastname: Chan
authors.forename: Yan-wo
authors.initials: YW
authors.lastname: Chan
authors.forename: Chi-chung
authors.initials: CC
authors.lastname: Shek
authors.forename: Sui-fan
authors.initials: SF
authors.lastname: Tong
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000235:genetics*; D009154:Mutation; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000235:genetics*
chemical_list: D020051:N-Acetylgalactosamine-4-Sulfatase