2002
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
1998
Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency
Li P, Thompson J, Wang X, Song L. Analysis of common mutations and associated haplotypes in Chinese patients with glucose‐6‐phosphate dehydrogenase deficiency. IUBMB Life 1998, 46: 1135-1143. PMID: 9891846, DOI: 10.1080/15216549800204692.Peer-Reviewed Original ResearchConceptsCommon mutationsSingle nucleotide polymorphismsPolymorphism lociDifferent allelic distributionFurther haplotype analysisDifferent haplotypesNucleotide polymorphismsMutationsDNA samplesAllelic associationPossible allelic associationLociHaplotype analysisAllelic distributionHaplotypesDehydrogenase deficiencyGlucose-6-phosphate dehydrogenase deficiencyFingerprinting method