The patient showed an R227Q mutation that has been described in an Asian population and MPH patients , along with a novel frameshift mutation , Tdel219 .
O B-OrganismTaxon O O B-SequenceVariant O O O O O O O O O O B-DiseaseOrPhenotypicFeature B-OrganismTaxon O O O O O O O O B-SequenceVariant O