{"id":"https://openalex.org/W1990743262","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)12:3<177::aid-humu5>3.0.co;2-e","title":"Detection of known and new mutations in the thiopurineS-methyltransferase gene by single-strand conformation polymorphism analysis","display_name":"Detection of known and new mutations in the thiopurineS-methyltransferase gene by single-strand conformation polymorphism analysis","publication_year":1998,"publication_date":"1998-01-01","ids":{"openalex":"https://openalex.org/W1990743262","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)12:3<177::aid-humu5>3.0.co;2-e","mag":"1990743262","pmid":"https://pubmed.ncbi.nlm.nih.gov/9711875"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1098-1004(1998)12:3<177::aid-humu5>3.0.co;2-e","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)12:3<177::aid-humu5>3.0.co;2-e","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1998)12:3<177::aid-humu5>3.0.co;2-e","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5098497005","display_name":"Catherine Spire\u2010Vayron de la Moureyre","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]},{"id":"https://openalex.org/I4210098263","display_name":"H\u00f4pital Albert Calmette","ror":"https://ror.org/00w81q081","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Catherine Spire-Vayron de la Moureyre","raw_affiliation_strings":["Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, France","Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, France","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]},{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069713209","display_name":"Herv\u00e9 Debuys\u00e8re","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]},{"id":"https://openalex.org/I4210098263","display_name":"H\u00f4pital Albert Calmette","ror":"https://ror.org/00w81q081","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Herv\u00e9 Debuys\u00e8re","raw_affiliation_strings":["Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]},{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010639330","display_name":"Nada Sabbagh","orcid":"https://orcid.org/0009-0009-1311-3147","observed_orcids":["https://orcid.org/0009-0009-1311-3147"]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]},{"id":"https://openalex.org/I4210098263","display_name":"H\u00f4pital Albert Calmette","ror":"https://ror.org/00w81q081","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nadda Sabbagh","raw_affiliation_strings":["Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]},{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018228973","display_name":"Delphine Marez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]},{"id":"https://openalex.org/I4210098263","display_name":"H\u00f4pital Albert Calmette","ror":"https://ror.org/00w81q081","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Delphine Marez","raw_affiliation_strings":["Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]},{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048847622","display_name":"Elizabeth Vinner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]},{"id":"https://openalex.org/I4210098263","display_name":"H\u00f4pital Albert Calmette","ror":"https://ror.org/00w81q081","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Elizabeth Vinner","raw_affiliation_strings":["Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]},{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013537473","display_name":"Emmanuel Dany Chevalier","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]},{"id":"https://openalex.org/I4210098263","display_name":"H\u00f4pital Albert Calmette","ror":"https://ror.org/00w81q081","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Emmanuel Dany Chevalier","raw_affiliation_strings":["Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]},{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080109601","display_name":"Jean\u2010Marc Lo\u2010Guidice","orcid":"https://orcid.org/0000-0003-3486-6809","observed_orcids":["https://orcid.org/0000-0003-3486-6809"]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]},{"id":"https://openalex.org/I4210098263","display_name":"H\u00f4pital Albert Calmette","ror":"https://ror.org/00w81q081","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean-Marc Lo Guidice","raw_affiliation_strings":["Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]},{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5054269806","display_name":"Franck Broly","orcid":"https://orcid.org/0000-0001-9483-0168","observed_orcids":["https://orcid.org/0000-0001-9483-0168"]},"institutions":[{"id":"https://openalex.org/I3018718406","display_name":"Centre Hospitalier Universitaire de Lille","ror":"https://ror.org/02ppyfa04","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406"]},{"id":"https://openalex.org/I4210098263","display_name":"H\u00f4pital Albert Calmette","ror":"https://ror.org/00w81q081","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Franck Broly","raw_affiliation_strings":["Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mole\u0301culaire, Ho\u0302pital Calmette, Centre Hospitalier Re\u0301gional et Universitaire de Lille, 59037 Lille, France;","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]},{"raw_affiliation_string":"Laboratoire de Biochimie et Biologie Mol\u00e9culaire, H\u00f4pital Calmette, Centre Hospitalier R\u00e9gional et Universitaire de Lille, 59037 Lille, France; Fax: 33\u20103.20.44.47.29","institution_ids":["https://openalex.org/I3018718406","https://openalex.org/I4210098263"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2740,"currency":"USD","value_usd":2740},"apc_paid":null,"fwci":5.0731,"has_fulltext":false,"cited_by_count":109,"citation_normalized_percentile":{"value":0.95969526,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"12","issue":"3","first_page":"177","last_page":"185"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12187","display_name":"Glutathione Transferases and Polymorphisms","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/thiopurine-methyltransferase","display_name":"thiopurine S-methyltransferase","score":0.9980000257492065},{"id":"https://openalex.org/keywords/single-strand-conformation-polymorphism","display_name":"single-strand conformation polymorphism","score":0.8149999976158142},{"id":"https://openalex.org/keywords/pcr-sscp","display_name":"PCR-SSCP","score":0.7419999837875366},{"id":"https://openalex.org/keywords/genetic-polymorphism","display_name":"genetic polymorphism","score":0.7210000157356262},{"id":"https://openalex.org/keywords/drug-toxicity","display_name":"drug toxicity","score":0.5860000252723694},{"id":"https://openalex.org/keywords/thiopurine-therapy","display_name":"thiopurine therapy","score":0.6110000014305115}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.9135116338729858},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7258796095848083},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.555647611618042},{"id":"https://openalex.org/C91965660","wikidata":"https://www.wikidata.org/wiki/Q415875","display_name":"Methyltransferase","level":4,"score":0.5320785045623779},{"id":"https://openalex.org/C129219603","wikidata":"https://www.wikidata.org/wiki/Q1788683","display_name":"Single-strand conformation polymorphism","level":4,"score":0.5199757814407349},{"id":"https://openalex.org/C149737253","wikidata":"https://www.wikidata.org/wiki/Q3240252","display_name":"Polymorphism (computer science)","level":4,"score":0.514600396156311},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.37750011682510376},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.33721014857292175},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.25647538900375366},{"id":"https://openalex.org/C33288867","wikidata":"https://www.wikidata.org/wiki/Q518328","display_name":"Methylation","level":3,"score":0.06606811285018921}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008780","descriptor_name":"Methyltransferases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018807","descriptor_name":"Polymorphism, Single-Stranded Conformational","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/(sici)1098-1004(1998)12:3<177::aid-humu5>3.0.co;2-e","doi":"https://doi.org/10.1002/(sici)1098-1004(1998)12:3<177::aid-humu5>3.0.co;2-e","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1098-1004(1998)12:3<177::aid-humu5>3.0.co;2-e","pdf_url":null,"source":{"id":"https://openalex.org/S98809561","display_name":"Human Mutation","issn_l":"1059-7794","issn":["1059-7794","1098-1004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Mutation","raw_type":"journal-article"},{"id":"pmid:9711875","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9711875","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human mutation","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W30502869","https://openalex.org/W1534517380","https://openalex.org/W1574225715","https://openalex.org/W1804439789","https://openalex.org/W1969556302","https://openalex.org/W1971199253","https://openalex.org/W1978999706","https://openalex.org/W1984169395","https://openalex.org/W1996409190","https://openalex.org/W2013220327","https://openalex.org/W2013962264","https://openalex.org/W2016756549","https://openalex.org/W2018150478","https://openalex.org/W2028263886","https://openalex.org/W2029841402","https://openalex.org/W2031824679","https://openalex.org/W2033250360","https://openalex.org/W2037268137","https://openalex.org/W2045502939","https://openalex.org/W2046081641","https://openalex.org/W2054698273","https://openalex.org/W2058710761","https://openalex.org/W2060310903","https://openalex.org/W2061764105","https://openalex.org/W2069546278","https://openalex.org/W2075888728","https://openalex.org/W2084140931","https://openalex.org/W2084271415","https://openalex.org/W2093044197","https://openalex.org/W2131863464","https://openalex.org/W2156950528","https://openalex.org/W2275960818","https://openalex.org/W2314225431"],"related_works":["https://openalex.org/W2004874110","https://openalex.org/W1983226689","https://openalex.org/W2067439491","https://openalex.org/W2384210110","https://openalex.org/W3037009042","https://openalex.org/W1893186719","https://openalex.org/W2035336252","https://openalex.org/W2153035966","https://openalex.org/W753375736","https://openalex.org/W1993283210"],"abstract_inverted_index":{"To":[0],"detect":[1,106],"mutations":[2,62,81],"in":[3,63,87,150,156,174,192,198,227],"the":[4,22,33,88,100,103,185,205,217,223,236,247],"thiopurine":[5],"S-methyltransferase":[6],"gene":[7,23,187,225],"(TPMT),":[8],"we":[9,208],"have":[10],"developed":[11,209],"a":[12,143,157,168,181,195],"strategy":[13,104,207],"based":[14],"on":[15],"single-strand":[16],"conformation":[17],"polymorphism":[18,238],"(SSCP)":[19],"analysis":[20],"of":[21,32,65,91,102,128,184,219,235,239,251],"amplified":[24],"by":[25,38,72,167],"polymerase":[26],"chain":[27],"reaction":[28],"(PCR).":[29],"The":[30,137,160],"sensitivity":[31],"method":[34],"was":[35,154,165,190],"first":[36,138],"evaluated":[37],"analyzing":[39],"DNA":[40,92],"samples":[41],"from":[42,115],"five":[43],"individuals,":[44],"including":[45,133],"two":[46,50,134],"high":[47],"methylators":[48,52],"(HMs),":[49],"intermediate":[51,200],"(IMs),":[53],"and":[54,61,76,118,153,229,249,254],"one":[55],"deficient":[56],"methylator":[57],"(DM).":[58],"TPMT":[59,108,186,224,240],"alleles":[60,130],"each":[64],"these":[66],"individuals":[67],"had":[68],"previously":[69],"been":[70],"characterized":[71,166],"conventional":[73],"PCR-based":[74],"assays":[75],"direct":[77],"sequencing":[78],"analysis.":[79,125],"All":[80],"were":[82,121,131],"associated":[83],"with":[84,194],"particular":[85],"shifts":[86],"electrophoretic":[89],"mobility":[90],"fragments,":[93],"allowing":[94],"their":[95],"identification.":[96],"We":[97,202],"further":[98],"tested":[99],"efficiency":[101],"to":[105,123,214,231],"new":[107,135],"mutations.":[109],"For":[110],"this":[111],"purpose,":[112],"additional":[113],"DNAs":[114],"15":[116,119],"IMs":[117],"HMs":[120],"submitted":[122],"PCR-SSCP":[124,206],"A":[126],"total":[127],"7":[129],"characterized,":[132],"alleles.":[136],"one,":[139,162],"termed":[140,163],"TPMT*1A,":[141],"harbors":[142],"single":[144],"mutation":[145],"C-->T":[146],"at":[147,171,222],"nucleotide":[148,172],"-178":[149],"exon":[151,175],"1":[152],"detected":[155],"HM":[158],"subject.":[159],"second":[161],"TPMT*7,":[164],"T-->G":[169],"transversion":[170],"681":[173],"10.":[176],"This":[177],"allele":[178,183,197],"should":[179],"be":[180,211],"nonfunctional":[182],"since":[188],"it":[189],"observed":[191],"combination":[193],"wild-type":[196],"an":[199],"methylator.":[201],"conclude":[203],"that":[204],"could":[210],"advantageously":[212],"used":[213,256],"fully":[215],"characterize":[216],"extent":[218],"allelic":[220],"variation":[221],"locus":[226],"populations":[228],"thus":[230],"improve":[232],"our":[233],"understanding":[234],"genetic":[237],"activity,":[241],"which":[242],"has":[243],"considerable":[244],"consequences":[245],"for":[246],"toxicity":[248],"efficacy":[250],"therapeutically":[252],"important":[253],"widely":[255],"drugs.":[257]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":5}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
