{"id":"https://openalex.org/W1996409190","doi":"https://doi.org/10.7326/0003-4819-126-8-199704150-00003","title":"Molecular Diagnosis of Thiopurine S-Methyltransferase Deficiency: Genetic Basis for Azathioprine and Mercaptopurine Intolerance","display_name":"Molecular Diagnosis of Thiopurine S-Methyltransferase Deficiency: Genetic Basis for Azathioprine and Mercaptopurine Intolerance","publication_year":1997,"publication_date":"1997-04-15","ids":{"openalex":"https://openalex.org/W1996409190","doi":"https://doi.org/10.7326/0003-4819-126-8-199704150-00003","mag":"1996409190","pmid":"https://pubmed.ncbi.nlm.nih.gov/9103127"},"language":"en","primary_location":{"id":"doi:10.7326/0003-4819-126-8-199704150-00003","doi":"https://doi.org/10.7326/0003-4819-126-8-199704150-00003","is_oa":false,"landing_page_url":"https://doi.org/10.7326/0003-4819-126-8-199704150-00003","pdf_url":null,"source":{"id":"https://openalex.org/S119722071","display_name":"Annals of Internal Medicine","issn_l":"0003-4819","issn":["0003-4819","1539-3704"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310316812","host_organization_name":"American College of Physicians","host_organization_lineage":["https://openalex.org/P4310316812"],"host_organization_lineage_names":["American College of Physicians"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Internal Medicine","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/A5019984805","display_name":"Charles Ryan Yates","orcid":"https://orcid.org/0000-0002-3730-3844","observed_orcids":["https://orcid.org/0000-0002-3730-3844"]},"institutions":[{"id":"https://openalex.org/I1313298211","display_name":"St. Jude Children's Research Hospital","ror":"https://ror.org/02r3e0967","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1313298211","https://openalex.org/I2802152183"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Charles R. Yates","raw_affiliation_strings":["For author affiliations and current author addresses, see end of text","St Jude Children's Research Hospital, Memphis, Tennessee 38105-2794, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"For author affiliations and current author addresses, see end of text","institution_ids":[]},{"raw_affiliation_string":"St Jude Children's Research Hospital, Memphis, Tennessee 38105-2794, USA","institution_ids":["https://openalex.org/I1313298211"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111728484","display_name":"Eugene Y. Krynetski","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eugene Y. Krynetski","raw_affiliation_strings":["For author affiliations and current author addresses, see end of text","University of Tennessee Health Science Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"For author affiliations and current author addresses, see end of text","institution_ids":[]},{"raw_affiliation_string":"University of Tennessee Health Science Center","institution_ids":["https://openalex.org/I160606119"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055220539","display_name":"Thrina Loennechen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thrina Loennechen","raw_affiliation_strings":["For author affiliations and current author addresses, see end of text","University of Tennessee Health Science Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"For author affiliations and current author addresses, see end of text","institution_ids":[]},{"raw_affiliation_string":"University of Tennessee Health Science Center","institution_ids":["https://openalex.org/I160606119"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078703402","display_name":"Michael Y. Fessing","orcid":"https://orcid.org/0000-0002-3120-8707","observed_orcids":["https://orcid.org/0000-0002-3120-8707"]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael Y. Fessing","raw_affiliation_strings":["For author affiliations and current author addresses, see end of text","University of Tennessee Health Science Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"For author affiliations and current author addresses, see end of text","institution_ids":[]},{"raw_affiliation_string":"University of Tennessee Health Science Center","institution_ids":["https://openalex.org/I160606119"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066707635","display_name":"Hung-Liang Tai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hung-Liang Tai","raw_affiliation_strings":["For author affiliations and current author addresses, see end of text","University of Tennessee Health Science Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"For author affiliations and current author addresses, see end of text","institution_ids":[]},{"raw_affiliation_string":"University of Tennessee Health Science Center","institution_ids":["https://openalex.org/I160606119"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018363328","display_name":"Ching\u2010Hon Pui","orcid":"https://orcid.org/0000-0003-0303-5658","observed_orcids":["https://orcid.org/0000-0003-0303-5658"]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ching-Hon Pui","raw_affiliation_strings":["For author affiliations and current author addresses, see end of text","University of Tennessee Health Science Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"For author affiliations and current author addresses, see end of text","institution_ids":[]},{"raw_affiliation_string":"University of Tennessee Health Science Center","institution_ids":["https://openalex.org/I160606119"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009866488","display_name":"Mary V. Relling","orcid":"https://orcid.org/0000-0002-3720-9591","observed_orcids":["https://orcid.org/0000-0002-3720-9591"]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mary V. Relling","raw_affiliation_strings":["For author affiliations and current author addresses, see end of text","University of Tennessee Health Science Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"For author affiliations and current author addresses, see end of text","institution_ids":[]},{"raw_affiliation_string":"University of Tennessee Health Science Center","institution_ids":["https://openalex.org/I160606119"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109980574","display_name":"William E. Evans","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I160606119","display_name":"University of Tennessee Health Science Center","ror":"https://ror.org/0011qv509","country_code":"US","type":"education","lineage":["https://openalex.org/I160606119"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William E. Evans","raw_affiliation_strings":["For author affiliations and current author addresses, see end of text","University of Tennessee Health Science Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"For author affiliations and current author addresses, see end of text","institution_ids":[]},{"raw_affiliation_string":"University of Tennessee Health Science Center","institution_ids":["https://openalex.org/I160606119"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":15.756,"has_fulltext":false,"cited_by_count":754,"citation_normalized_percentile":{"value":0.99747092,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"126","issue":"8","first_page":"608","last_page":"614"},"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/T11117","display_name":"Drug-Induced Adverse Reactions","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2736","display_name":"Pharmacology (medical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health 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":0.6890000104904175},{"id":"https://openalex.org/keywords/azathioprine-intolerance","display_name":"azathioprine intolerance","score":0.8500000238418579},{"id":"https://openalex.org/keywords/myelosuppression","display_name":"myelosuppression","score":0.9449999928474426},{"id":"https://openalex.org/keywords/tpmt-2","display_name":"TPMT*2","score":0.5509999990463257},{"id":"https://openalex.org/keywords/tpmt-3a","display_name":"TPMT*3A","score":0.8930000066757202},{"id":"https://openalex.org/keywords/tpmt-3c","display_name":"TPMT*3C","score":0.9430000185966492},{"id":"https://openalex.org/keywords/tpmt-polymorphism","display_name":"TPMT polymorphism","score":0.5199999809265137},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.4259999990463257}],"concepts":[{"id":"https://openalex.org/C70917649","wikidata":"https://www.wikidata.org/wiki/Q94307","display_name":"Thiopurine methyltransferase","level":4,"score":0.9885514974594116},{"id":"https://openalex.org/C2776760755","wikidata":"https://www.wikidata.org/wiki/Q18939","display_name":"Azathioprine","level":3,"score":0.6144310235977173},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.5989038348197937},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.566649317741394},{"id":"https://openalex.org/C2777173762","wikidata":"https://www.wikidata.org/wiki/Q418529","display_name":"Mercaptopurine","level":2,"score":0.5111361145973206},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5078285336494446},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4882969856262207},{"id":"https://openalex.org/C55775858","wikidata":"https://www.wikidata.org/wiki/Q1152227","display_name":"Pharmacogenetics","level":4,"score":0.4163423776626587},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.41201692819595337},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4067084789276123},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.30985701084136963},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.279049813747406},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12664926052093506},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001379","descriptor_name":"Azathioprine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D004912","descriptor_name":"Erythrocytes","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008780","descriptor_name":"Methyltransferases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"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":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015122","descriptor_name":"Mercaptopurine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.7326/0003-4819-126-8-199704150-00003","doi":"https://doi.org/10.7326/0003-4819-126-8-199704150-00003","is_oa":false,"landing_page_url":"https://doi.org/10.7326/0003-4819-126-8-199704150-00003","pdf_url":null,"source":{"id":"https://openalex.org/S119722071","display_name":"Annals of Internal Medicine","issn_l":"0003-4819","issn":["0003-4819","1539-3704"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310316812","host_organization_name":"American College of Physicians","host_organization_lineage":["https://openalex.org/P4310316812"],"host_organization_lineage_names":["American College of Physicians"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of Internal Medicine","raw_type":"journal-article"},{"id":"pmid:9103127","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9103127","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":"Annals of internal medicine","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G6976670576","display_name":"LEUKEMIA PROGRAM PROJECT","funder_award_id":"P01CA020180","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G7777329513","display_name":"PHARMACOGENOMICS OF CHILDHOOD LEUKEMIA (ALL)","funder_award_id":"R37CA036401","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G9000904664","display_name":"Cancer Center Support Grant (CCSG)","funder_award_id":"P30CA021765","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2271765448","https://openalex.org/W1970171095","https://openalex.org/W1969556302","https://openalex.org/W2083220019","https://openalex.org/W1574225715","https://openalex.org/W2092002183","https://openalex.org/W2409944411","https://openalex.org/W2314373759","https://openalex.org/W2076472107","https://openalex.org/W4410826846"],"abstract_inverted_index":{"BACKGROUND:":[0],"Thiopurine":[1],"S-methyltransferase":[2],"(TPMT)":[3],"catalyzes":[4],"the":[5,80,88,158,164,189,218,312],"S-methylation":[6],"(that":[7],"is,":[8],"inactivation)":[9],"of":[10,21,28,48,90,133,181,191,209,224,252,271,289,338],"mercaptopurine,":[11],"azathioprine,":[12],"and":[13,15,30,73,83,93,113,127,163,166,188,194,232,269,319,334,350],"thioguanine":[14,64],"exhibits":[16],"genetic":[17,81],"polymorphism.":[18],"About":[19],"10%":[20],"patients":[22,61,200,242,254,273],"have":[23,316],"intermediate":[24,123,262],"TPMT":[25,36,91,104,114,124,178,182,192,245,263,286,290,314,339],"activity":[26,125,264,282],"because":[27],"heterozygosity,":[29],"about":[31],"1":[32],"in":[33,66,108,118,144,161,169,185,228,292],"300":[34],"inherit":[35],"deficiency":[37,92,246],"as":[38],"an":[39,329],"autosomal":[40],"recessive":[41],"trait.":[42],"If":[43],"they":[44],"receive":[45],"standard":[46],"doses":[47],"thiopurine":[49],"medications":[50],"(for":[51],"example,":[52],"75":[53],"mg/m2":[54],"body":[55],"surface":[56],"area":[57],"per":[58],"day),":[59],"TPMT-deficient":[60,146,349],"accumulate":[62],"excessive":[63],"nucleotides":[65],"hematopoietic":[67],"tissues,":[68],"which":[69,327],"leads":[70],"to":[71,156,176,214,258,277],"severe":[72],"possibly":[74],"fatal":[75],"myelosuppression.":[76],"OBJECTIVE:":[77],"To":[78],"elucidate":[79],"basis":[82],"develop":[84],"molecular":[85,343],"methods":[86],"for":[87,346],"diagnosis":[89],"heterozygosity.":[94],"DESIGN:":[95],"Diagnostic":[96],"test":[97],"evaluation.":[98],"SETTING:":[99],"Research":[100],"hospital.":[101],"PATIENTS:":[102],"The":[103,307,336],"phenotype":[105,195,205],"was":[106,116,142,174,196,217],"determined":[107,117,143],"282":[109],"unrelated":[110],"white":[111],"persons,":[112],"genotype":[115,141,193,333],"all":[119],"persons":[120,134],"who":[121,135,201,243,260,279],"had":[122,136,202,244,247,261,265,280,283],"(heterozygotes)":[126],"a":[128,203,342],"randomly":[129],"selected,":[130],"equal":[131],"number":[132],"high":[137,281],"activity.":[138,179],"In":[139],"addition,":[140],"6":[145,241],"patients.":[147,352],"MEASUREMENTS:":[148],"Polymerase":[149],"chain":[150],"reaction":[151],"(PCR)":[152],"assays":[153],"were":[154,183,206,234],"developed":[155],"detect":[157],"G238C":[159],"transversion":[160],"TPMT*2":[162,231],"G460A":[165],"A719G":[167],"transitions":[168],"TPMT*3":[170],"alleles.":[171],"Radiochemical":[172],"assay":[173],"used":[175],"measure":[177],"Mutations":[180],"identified":[184,207,318],"genomic":[186,293],"DNA,":[187],"concordance":[190,331],"determined.":[197],"RESULTS:":[198],"21":[199,225,253,270,272],"heterozygous":[204,351],"(7.4%":[208],"sample":[210],"[95%":[211],"CI,":[212],"4.7%":[213],"11.2%]).":[215],"TPMT*3A":[216],"most":[219],"prevalent":[220],"mutant":[221,226,249,267],"allele":[222],"(18":[223],"alleles":[227],"heterozygotes;":[229],"85%);":[230],"TPMT*3C":[233],"more":[235],"rare":[236],"(about":[237],"5%":[238],"each).":[239],"All":[240],"two":[248],"alleles,":[250],"20":[251],"(95%":[255],"[CI,":[256,275],"76%":[257],"99.9%])":[259],"one":[266],"allele,":[268],"(100%":[274],"83%":[276],"100%])":[278],"no":[284],"known":[285],"mutation.":[287],"Detection":[288],"mutations":[291,310,340],"DNA":[294,304],"by":[295,302,324],"PCR":[296],"coincided":[297],"perfectly":[298],"with":[299],"genotypes":[300],"detected":[301,323],"complementary":[303],"sequencing.":[305],"CONCLUSIONS:":[306],"major":[308],"inactivating":[309],"at":[311],"human":[313],"locus":[315],"been":[317],"can":[320],"be":[321],"reliably":[322],"PCR-based":[325],"methods,":[326],"show":[328],"excellent":[330],"between":[332],"phenotype.":[335],"detection":[337],"provides":[341],"diagnostic":[344],"method":[345],"prospectively":[347],"identifying":[348]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":7},{"year":2022,"cited_by_count":7},{"year":2021,"cited_by_count":11},{"year":2020,"cited_by_count":14},{"year":2019,"cited_by_count":16},{"year":2018,"cited_by_count":19},{"year":2017,"cited_by_count":24},{"year":2016,"cited_by_count":23},{"year":2015,"cited_by_count":14},{"year":2014,"cited_by_count":26},{"year":2013,"cited_by_count":32},{"year":2012,"cited_by_count":43}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}