Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene
Li P, Wood T, Thompson JN. Diversity of mutations and distribution of single nucleotide polymorphic alleles in the human α-l-iduronidase (IDUA) gene. Genetics In Medicine 2002, 4: 420-426. PMID: 12509712, DOI: 10.1097/00125817-200211000-00004.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsSNP allelesPolymorphic allelesDisease-causing mutationsRestriction enzyme assayDiversity of mutationsIDUA geneHaplotype structureCommon haplotype structuresLysosomal glycosidaseEnzyme assaysMolecular studiesPhenotype-genotype correlationGenesNucleotide polymorphismsPCR ampliconsMutationsMutational heterogeneityReverse transcriptional polymerase chain reactionRecurrent mutationsAllelesIduronidase geneDifferent mutationsPolymorphism analysisTranscriptional polymerase chain reaction