{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T14:34:07Z","timestamp":1782311647667,"version":"3.54.5"},"reference-count":16,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Biochemistry"],"published-print":{"date-parts":[[2019,2]]},"DOI":"10.1016\/j.clinbiochem.2018.12.008","type":"journal-article","created":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T20:52:32Z","timestamp":1545339152000},"page":"49-52","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["An unusual case of alpha-1-antitrypsin deficiency: SZ\/Z"],"prefix":"10.1016","volume":"64","author":[{"given":"M.D.","family":"Speevak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.L.","family":"DeMarco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.S.","family":"Wiebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.R.","family":"Chapman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0075","doi-asserted-by":"crossref","first-page":"33293","DOI":"10.1074\/jbc.R100016200","article-title":"The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature","volume":"276","author":"Silverman","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0030","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1073\/pnas.97.1.67","article-title":"Inactive conformation of the serpin alpha(1)-antichymotrypsin indicates two-stage insertion of the reactive loop: implications for inhibitory function and conformational disease","volume":"97","author":"Gooptu","year":"2000","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0025","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1111\/joim.12239","article-title":"Role of alpha-1 antitrypsin in human health and disease","volume":"276","author":"De Serres","year":"2014","journal-title":"J. Intern. Med."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0080","series-title":"GeneReviews\u00ae [Internet]","article-title":"Alpha-1 antitrypsin deficiency. 2006 Oct 27 [Updated 2017 Jan 19]","author":"Stoller","year":"1993"},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0010","first-page":"660","article-title":"Genetic variation of alpha 1-antitrypsin","volume":"30","author":"Cox","year":"1978","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0045","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0035","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/j.jmoldx.2015.07.002","article-title":"SERPINA1 full-gene sequencing identifies rare mutations not detected in targeted mutation analysis","volume":"17","author":"Graham","year":"2015","journal-title":"J. Mol. Diagn."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0060","doi-asserted-by":"crossref","first-page":"1492","DOI":"10.1107\/S1744309111040267","article-title":"Therapeutic target-site variability in \u03b11-antitrypsin characterized at high resolution","volume":"67","author":"Patschull","year":"2011","journal-title":"Acta. Crystallogr. Sect. F Struct. Biol. Cryst. Commun."},{"issue":"13","key":"10.1016\/j.clinbiochem.2018.12.008_bb0065","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1002\/jcc.20084","article-title":"UCSF Chimera\u2014a visualization system for exploratory research and analysis","volume":"25","author":"Pettersen","year":"2004","journal-title":"J. Comput. Chem."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0015","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/316079a0","article-title":"DNA restriction fragment associated with \u03b11-antitrypsin indicate a single origin for the deficiency allele PI Z","volume":"316","author":"Cox","year":"1985","journal-title":"Nature"},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0040","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1111\/j.1469-1809.2008.00431.x","article-title":"Age of SERPINA1 gene PI Z mutation: Swedish and Latvian population analysis","volume":"72","author":"Lace","year":"2008","journal-title":"Ann. Hum. Genet."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0050","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1136\/thorax.2003.006494","article-title":"\u03b11-Antitrypsin deficiency: epidemiology of \u03b11-antitrypsin deficiency","volume":"49","author":"Luisetti","year":"2004","journal-title":"Thorax"},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0070","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1007\/s004390000434","article-title":"Patterns of haplotype diversity within the serpin gene cluster at 14q32.1: insights into the natural history of the \u03b11-antitrypsin polymorphism","volume":"108","author":"Seixas","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0005","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1038\/nrg2193","article-title":"Gene conversion: mechanisms, evolution and human disease","volume":"8","author":"Chen","year":"2017","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0055","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/s41467-017-00323-y","article-title":"Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes","volume":"8","author":"Narasimhan","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.clinbiochem.2018.12.008_bb0020","first-page":"40","article-title":"Origins and spreads of Alpha 1 antitrypsin variants in world human populations: a synthetic review","volume":"5","author":"Denden","year":"2012","journal-title":"Int. J. Mod. Anthropol."}],"container-title":["Clinical Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912018309603?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912018309603?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:54:12Z","timestamp":1757865252000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009912018309603"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":16,"alternative-id":["S0009912018309603"],"URL":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2018.12.008","relation":{},"ISSN":["0009-9120"],"issn-type":[{"value":"0009-9120","type":"print"}],"subject":[],"published":{"date-parts":[[2019,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"An unusual case of alpha-1-antitrypsin deficiency: SZ\/Z","name":"articletitle","label":"Article Title"},{"value":"Clinical Biochemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2018.12.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Crown Copyright \u00a9 2018 Published by Elsevier Inc. on behalf of The Canadian Society of Clinical Chemists. All rights reserved.","name":"copyright","label":"Copyright"}]}}