title: A novel mutation (Q239R) identified in a Taiwan Chinese patient with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).
authors.affiliation: Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
authors.forename: C F
authors.initials: CF
authors.lastname: Yang
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: J G
authors.initials: JG
authors.lastname: Chang
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D001120:Arginine; D044466:Asian People / Q000235:genetics; D002681:China / Q000208:ethnology; D005808:Genes, Recessive / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D005973:Glutamine; D006801:Humans; D009087:Mucopolysaccharidosis VI / Q000201:enzymology / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000235:genetics; D013577:Syndrome; D013624:Taiwan / Q000453:epidemiology
chemical_list: D005973:Glutamine; D001120:Arginine; D020051:N-Acetylgalactosamine-4-Sulfatase