{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T17:45:57Z","timestamp":1777311957967,"version":"3.51.4"},"reference-count":8,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,8,20]],"date-time":"2019-08-20T00:00:00Z","timestamp":1566259200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2020,7]]},"DOI":"10.1111\/cga.12354","type":"journal-article","created":{"date-parts":[[2019,8,10]],"date-time":"2019-08-10T06:38:25Z","timestamp":1565419105000},"page":"126-127","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<i>IDUA<\/i> gene mutations in mucopolysaccharidosis type\u20101 patients from two Pakistani inbred families"],"prefix":"10.1111","volume":"60","author":[{"given":"Rutaba","family":"Gul","sequence":"first","affiliation":[{"name":"Department of Animal Sciences, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islambad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4959-7832","authenticated-orcid":false,"given":"Sabika","family":"Firasat","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islambad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mulazim","family":"Hussain","sequence":"additional","affiliation":[{"name":"The Children Hospital, Pakistan Institute of Medical Sciences  Islamabad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiran","family":"Afshan","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islambad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dil","family":"Nawaz","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences, Faculty of Biological Sciences Quaid\u2010i\u2010Azam University  Islambad Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,20]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"3421","volume-title":"The Metabolic & Molecular Bases of Inherited Disease","author":"Neufeld EFMJ","year":"2001"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-22"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2013.281053"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.20.8390"},{"key":"e_1_2_4_6_1","first-page":"1","article-title":"Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: identification of four known and a novel causative variant at the 3\u2032 splice acceptor site of intron 2","author":"Afzal R","year":"2018","journal-title":"Congenit Anom"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380060111"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg509"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12354","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cga.12354","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12354","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,6]],"date-time":"2023-09-06T07:15:26Z","timestamp":1693984526000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12354"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,20]]},"references-count":8,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1111\/cga.12354"],"URL":"https:\/\/doi.org\/10.1111\/cga.12354","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,20]]},"assertion":[{"value":"2019-06-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}