title: A novel in-frame deletion mutation (c106-111del) identified in a Taiwan Chinese patient with type IVA mucopolysaccharidosis.
authors.affiliation: Department of Medical Research, China Medical College Hospital, Taichung, Taiwan.
authors.forename: C F
authors.initials: CF
authors.lastname: Yang
authors.forename: F J
authors.initials: FJ
authors.lastname: Tsai
authors.forename: S P
authors.initials: SP
authors.lastname: Lin
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: J Y
authors.initials: JY
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002811:Chondroitinsulfatases / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D016366:Open Reading Frames / Q000235:genetics; D017384:Sequence Deletion; D013624:Taiwan
chemical_list: D004247:DNA; D002811:Chondroitinsulfatases; C102295:GALNS protein, human