{"id":"https://openalex.org/W2002208517","doi":"https://doi.org/10.1038/316079a0","title":"DNA restriction fragments associated with \u03b11-antitrypsin indicate a single origin for deficiency allele PI Z","display_name":"DNA restriction fragments associated with \u03b11-antitrypsin indicate a single origin for deficiency allele PI Z","publication_year":1985,"publication_date":"1985-07-01","ids":{"openalex":"https://openalex.org/W2002208517","doi":"https://doi.org/10.1038/316079a0","mag":"2002208517","pmid":"https://pubmed.ncbi.nlm.nih.gov/2989709"},"language":"en","primary_location":{"id":"doi:10.1038/316079a0","doi":"https://doi.org/10.1038/316079a0","is_oa":false,"landing_page_url":"https://doi.org/10.1038/316079a0","pdf_url":null,"source":{"id":"https://openalex.org/S137773608","display_name":"Nature","issn_l":"0028-0836","issn":["0028-0836","1476-4687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2002208517"],"child_works_count":0,"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/A5103388720","display_name":"Diane Wilson Cox","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"]},{"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":"Diane Wilson Cox","raw_affiliation_strings":["Departments of Paediatrics, Medical Genetics & Medical Biophysics, University of Toronto, Toronto, M5S 1A8, Canada","Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Paediatrics, Medical Genetics & Medical Biophysics, University of Toronto, Toronto, M5S 1A8, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110185434","display_name":"Savio L.C. Woo","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"]},{"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":"Savio L. C. Woo","raw_affiliation_strings":["Departments of Paediatrics, Medical Genetics & Medical Biophysics, University of Toronto, Toronto, M5S 1A8, Canada","Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Paediatrics, Medical Genetics & Medical Biophysics, University of Toronto, Toronto, M5S 1A8, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5075935827","display_name":"Tammy Mansfield","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"]},{"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":"Tammy Mansfield","raw_affiliation_strings":["Departments of Paediatrics, Medical Genetics & Medical Biophysics, University of Toronto, Toronto, M5S 1A8, Canada","Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Paediatrics, Medical Genetics & Medical Biophysics, University of Toronto, Toronto, M5S 1A8, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Research Institute, Hospital for Sick Children, 555 University Avenue, Toronto, M5G 1X8, Canada","institution_ids":["https://openalex.org/I2801317318"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":12690,"currency":"USD","value_usd":12690},"apc_paid":null,"fwci":6.9276,"has_fulltext":false,"cited_by_count":164,"citation_normalized_percentile":{"value":0.97946344,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"316","issue":"6023","first_page":"79","last_page":"81"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.8935999870300293,"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"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.8935999870300293,"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/T10620","display_name":"Protease and Inhibitor Mechanisms","score":0.07429999858140945,"subfield":{"id":"https://openalex.org/subfields/1306","display_name":"Cancer Research"},"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/T10143","display_name":"Chronic Obstructive Pulmonary Disease (COPD) Research","score":0.010900000110268593,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/alpha-1-antitrypsin-deficiency","display_name":"alpha-1 antitrypsin deficiency","score":0.9089999794960022},{"id":"https://openalex.org/keywords/pi-z-allele","display_name":"PI*Z allele","score":0.9160000085830688},{"id":"https://openalex.org/keywords/alpha-1-antitrypsin-gene","display_name":"alpha-1-antitrypsin gene","score":0.8730000257492065},{"id":"https://openalex.org/keywords/chromosome-14","display_name":"chromosome 14","score":0.7160000205039978},{"id":"https://openalex.org/keywords/restriction-fragment-polymorphism","display_name":"restriction fragment polymorphism","score":0.6980000138282776},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.8700000047683716},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.8159999847412109},{"id":"https://openalex.org/keywords/allele-origin","display_name":"allele origin","score":0.734000027179718},{"id":"https://openalex.org/keywords/emphysema","display_name":"emphysema","score":0.6610000133514404},{"id":"https://openalex.org/keywords/liver-disease","display_name":"liver disease","score":0.7319999933242798}],"concepts":[{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.7755367755889893},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.708455502986908},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6826164722442627},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6147940158843994},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5886217355728149},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5715875029563904},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.5267987847328186},{"id":"https://openalex.org/C168007829","wikidata":"https://www.wikidata.org/wiki/Q857299","display_name":"Restriction fragment length polymorphism","level":4,"score":0.4943513870239258},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.4713031053543091},{"id":"https://openalex.org/C128319531","wikidata":"https://www.wikidata.org/wiki/Q219715","display_name":"Restriction enzyme","level":3,"score":0.4583240747451782},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.44568949937820435}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004262","descriptor_name":"DNA Restriction Enzymes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D019896","descriptor_name":"alpha 1-Antitrypsin Deficiency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/316079a0","doi":"https://doi.org/10.1038/316079a0","is_oa":false,"landing_page_url":"https://doi.org/10.1038/316079a0","pdf_url":null,"source":{"id":"https://openalex.org/S137773608","display_name":"Nature","issn_l":"0028-0836","issn":["0028-0836","1476-4687"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319908","host_organization_name":"Nature Portfolio","host_organization_lineage":["https://openalex.org/P4310319908","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Nature Portfolio","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Nature","raw_type":"journal-article"},{"id":"pmid:2989709","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2989709","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":"Nature","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":0.8371999859809875}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G3601489299","display_name":"ALPHA-1-ANTITRYPSIN GENE AND PULMONARY EMPHYSEMA","funder_award_id":"R01HL027509","funder_id":"https://openalex.org/F4320337338","funder_display_name":"National Heart, Lung, and Blood Institute"}],"funders":[{"id":"https://openalex.org/F4320337338","display_name":"National Heart, Lung, and Blood Institute","ror":"https://ror.org/012pb6c26"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W1481922934","https://openalex.org/W1533179050","https://openalex.org/W1768927099","https://openalex.org/W1803375514","https://openalex.org/W1975285709","https://openalex.org/W1999006276","https://openalex.org/W1999333401","https://openalex.org/W2016388847","https://openalex.org/W2023374624","https://openalex.org/W2025560515","https://openalex.org/W2041397397","https://openalex.org/W2050587438","https://openalex.org/W2051329975","https://openalex.org/W2054080856","https://openalex.org/W2057463860","https://openalex.org/W2064145594","https://openalex.org/W2087065920","https://openalex.org/W2089695818","https://openalex.org/W2163294806","https://openalex.org/W2232316807","https://openalex.org/W2287033418"],"related_works":["https://openalex.org/W78918818","https://openalex.org/W2056927663","https://openalex.org/W2168550354","https://openalex.org/W1801068741","https://openalex.org/W4317675403","https://openalex.org/W2076156870","https://openalex.org/W2003157372","https://openalex.org/W2038515969","https://openalex.org/W1864224905"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-14T11:04:58.165337","created_date":"2016-06-24T00:00:00"}