title: Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: L A
authors.initials: LA
authors.lastname: Clarke
authors.forename: H S
authors.initials: HS
authors.lastname: Scott
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004277:DNA, Single-Stranded / Q000032:analysis; D005091:Exons; D005260:Female; D005808:Genes, Recessive; D006639:Histidine; D006801:Humans; D007068:Iduronidase / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D008059:Mucopolysaccharidosis I / Q000201:enzymology* / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011392:Proline; D015183:Restriction Mapping
chemical_list: D017931:DNA Primers; D004277:DNA, Single-Stranded; D006639:Histidine; D011392:Proline; D007068:Iduronidase