Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene.
Clarke
L A
LA
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Scott
H S
HS
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
D017931:DNA Primers; D004277:DNA, Single-Stranded; D006639:Histidine; D011392:Proline; D007068:Iduronidase