Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.
Moskowitz
S M
SM
Department of Biological Chemistry, School of Medicine, University of California, Los Angeles 90024-1737.
Tieu
P T
PT
Neufeld
E F
EF
D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D007068:Iduronidase / Q000235:genetics; D007438:Introns; D008969:Molecular Sequence Data; D008059:Mucopolysaccharidosis I / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics
D004247:DNA; D007068:Iduronidase