{"id":"https://openalex.org/W2085313290","doi":"https://doi.org/10.1093/nar/19.4.959","title":"Detection of \u03b2-thalassemia using an artifical-restriction fragment length polymorphism generated by the polymerase chain reaction","display_name":"Detection of \u03b2-thalassemia using an artifical-restriction fragment length polymorphism generated by the polymerase chain reaction","publication_year":1991,"publication_date":"1991-01-01","ids":{"openalex":"https://openalex.org/W2085313290","doi":"https://doi.org/10.1093/nar/19.4.959","mag":"2085313290","pmid":"https://pubmed.ncbi.nlm.nih.gov/1673235","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/333742"},"language":"en","primary_location":{"id":"doi:10.1093/nar/19.4.959","doi":"https://doi.org/10.1093/nar/19.4.959","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/19.4.959","pdf_url":"https://academic.oup.com/nar/article-pdf/19/4/959/3542957/19-4-959.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://academic.oup.com/nar/article-pdf/19/4/959/3542957/19-4-959.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Michael A. Ward","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Michael A. Ward","raw_affiliation_strings":["Department of Medical Genetics, University of Toronto, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University of Toronto, Canada","institution_ids":["https://openalex.org/I185261750"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067753758","display_name":"Nancy F. Olivieri","orcid":"https://orcid.org/0000-0002-4053-2445","observed_orcids":["https://orcid.org/0000-0002-4053-2445"]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Nancy F. Olivieri","raw_affiliation_strings":["Department of Haematology/Oncology, The Hospital for Sick Children Toronto M5G 1X8, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Haematology/Oncology, The Hospital for Sick Children Toronto M5G 1X8, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104364862","display_name":"Judith Ng","orcid":"https://orcid.org/0000-0001-8035-0198","observed_orcids":["https://orcid.org/0000-0001-8035-0198"]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Judith Ng","raw_affiliation_strings":["Department of Haematology/Oncology, The Hospital for Sick Children Toronto M5G 1X8, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Haematology/Oncology, The Hospital for Sick Children Toronto M5G 1X8, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111715744","display_name":"John Roder","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1291836623","display_name":"Mount Sinai Hospital","ror":"https://ror.org/05deks119","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I1291836623","https://openalex.org/I4210130843"]},{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I210557978","display_name":"Lunenfeld-Tanenbaum Research Institute","ror":"https://ror.org/01s5axj25","country_code":"CA","type":"facility","lineage":["https://openalex.org/I1291836623","https://openalex.org/I210557978","https://openalex.org/I4210130843"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"John C. Roder","raw_affiliation_strings":["Department of Medical Genetics, University of Toronto, and Division of Molecular Immunology and Neurobiology, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto M5G IX5 and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, University of Toronto, and Division of Molecular Immunology and Neurobiology, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto M5G IX5 and","institution_ids":["https://openalex.org/I1291836623","https://openalex.org/I185261750","https://openalex.org/I210557978"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3992,"currency":"USD","value_usd":3992},"apc_paid":null,"fwci":0.5907,"has_fulltext":true,"cited_by_count":9,"citation_normalized_percentile":{"value":0.65977444,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"19","issue":"4","first_page":"959","last_page":"959"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/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/T10452","display_name":"Iron Metabolism and Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/beta-thalassemia","display_name":"beta-thalassemia","score":0.9430000185966492},{"id":"https://openalex.org/keywords/pcr-detection","display_name":"PCR detection","score":0.5090000033378601},{"id":"https://openalex.org/keywords/hemoglobinopathies","display_name":"hemoglobinopathies","score":0.6240000128746033},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.3319999873638153}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.932850182056427},{"id":"https://openalex.org/C168007829","wikidata":"https://www.wikidata.org/wiki/Q857299","display_name":"Restriction fragment length polymorphism","level":4,"score":0.8490109443664551},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.7867820262908936},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6215476393699646},{"id":"https://openalex.org/C171636592","wikidata":"https://www.wikidata.org/wiki/Q3395646","display_name":"Terminal restriction fragment length polymorphism","level":5,"score":0.5791944861412048},{"id":"https://openalex.org/C2777799968","wikidata":"https://www.wikidata.org/wiki/Q185137","display_name":"Thalassemia","level":2,"score":0.5705981850624084},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5386910438537598},{"id":"https://openalex.org/C2776235265","wikidata":"https://www.wikidata.org/wiki/Q18392052","display_name":"Fragment (logic)","level":2,"score":0.5192530155181885},{"id":"https://openalex.org/C84289048","wikidata":"https://www.wikidata.org/wiki/Q7316314","display_name":"Restriction fragment","level":3,"score":0.510620653629303},{"id":"https://openalex.org/C149737253","wikidata":"https://www.wikidata.org/wiki/Q3240252","display_name":"Polymorphism (computer science)","level":4,"score":0.464912474155426},{"id":"https://openalex.org/C150189879","wikidata":"https://www.wikidata.org/wiki/Q5130997","display_name":"Cleaved amplified polymorphic sequence","level":5,"score":0.43845221400260925},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.34170758724212646},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29268375039100647},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.18759605288505554},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0},{"id":"https://openalex.org/C199360897","wikidata":"https://www.wikidata.org/wiki/Q9143","display_name":"Programming language","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005914","descriptor_name":"Globins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012150","descriptor_name":"Polymorphism, Restriction Fragment Length","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D013789","descriptor_name":"Thalassemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","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}],"locations_count":3,"locations":[{"id":"doi:10.1093/nar/19.4.959","doi":"https://doi.org/10.1093/nar/19.4.959","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/19.4.959","pdf_url":"https://academic.oup.com/nar/article-pdf/19/4/959/3542957/19-4-959.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:333742","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/333742","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Nucleic Acids Res","raw_type":"Text"},{"id":"pmid:1673235","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1673235","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":"Nucleic acids research","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1093/nar/19.4.959","doi":"https://doi.org/10.1093/nar/19.4.959","is_oa":true,"landing_page_url":"https://doi.org/10.1093/nar/19.4.959","pdf_url":"https://academic.oup.com/nar/article-pdf/19/4/959/3542957/19-4-959.pdf","source":{"id":"https://openalex.org/S134668137","display_name":"Nucleic Acids Research","issn_l":"0305-1048","issn":["0305-1048","1362-4954","1362-4962"],"is_oa":false,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","oarl","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nucleic Acids Research","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320324195","display_name":"Medical Research Council Canada","ror":"https://ror.org/01gavpb45"},{"id":"https://openalex.org/F4320334593","display_name":"Natural Sciences and Engineering Research Council of Canada","ror":"https://ror.org/01h531d29"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2085313290.pdf","grobid_xml":"https://content.openalex.org/works/W2085313290.grobid-xml"},"referenced_works_count":4,"referenced_works":["https://openalex.org/W1997521650","https://openalex.org/W2030637796","https://openalex.org/W2071164850","https://openalex.org/W2143066383"],"related_works":["https://openalex.org/W7073900881","https://openalex.org/W2314265679","https://openalex.org/W1986971496","https://openalex.org/W2419407772","https://openalex.org/W3215615405","https://openalex.org/W2001822743","https://openalex.org/W2240202344","https://openalex.org/W1969401069","https://openalex.org/W7099090142","https://openalex.org/W2472284623"],"abstract_inverted_index":{"Michael":[0],"A.":[1],"Ward,":[2],"Nancy":[3],"F.":[4],"Olivieri,":[5],"Judith":[6],"Ng,":[7],"John":[8],"C.":[9],"Roder;":[10],"Detection":[11],"of":[12],"\u03b2-thalassemia":[13],"using":[14],"an":[15],"artifical-restriction":[16],"fragment":[17],"length":[18],"polymorphism":[19],"genera":[20]},"counts_by_year":[{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}