{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T13:59:59Z","timestamp":1768917599730,"version":"3.49.0"},"reference-count":15,"publisher":"Hindawi Limited","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":8644,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[1992]]},"DOI":"10.1002\/humu.1380010404","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:05:29Z","timestamp":1118531129000},"page":"288-292","source":"Crossref","is-referenced-by-count":58,"title":["A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries"],"prefix":"10.1155","volume":"1","author":[{"given":"Peiyi Y.","family":"Hu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donna E.","family":"Roth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura A.","family":"Skaggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick J.","family":"Venta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard E.","family":"Tashian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Guibaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William S.","family":"Sly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"10.1002\/humu.1380010404-BIB1","first-page":"211","volume":"48","author":"Bejaoui","year":"1991","journal-title":"Arch Fr Pediatr"},{"key":"10.1002\/humu.1380010404-BIB2","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1007\/BF02396217","volume":"30","author":"Bergenhem","year":"1992","journal-title":"Biochem Genet"},{"key":"10.1002\/humu.1380010404-BIB3","first-page":"121","volume":"42","author":"Cochat","year":"1987","journal-title":"Pediatrie"},{"key":"10.1002\/humu.1380010404-BIB4","first-page":"269","volume":"29","author":"Guibaud","year":"1972","journal-title":"Arch Fr Pediatr"},{"key":"10.1002\/humu.1380010404-BIB5","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1111\/j.1469-8749.1980.tb04307.x","volume":"22","author":"Ohlsson","year":"1980","journal-title":"Dev Med Child Neurol"},{"key":"10.1002\/humu.1380010404-BIB6","doi-asserted-by":"crossref","first-page":"1804","DOI":"10.1073\/pnas.89.5.1804","volume":"89","author":"Roth","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380010404-BIB7","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","volume":"74","author":"Sanger","year":"1977","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380010404-BIB8","first-page":"447","volume":"20","author":"Schwartz","year":"1991","journal-title":"Skeletal Radiol"},{"key":"10.1002\/humu.1380010404-BIB9","first-page":"34a","volume":"24","author":"Sly","year":"1972","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380010404-BIB10","doi-asserted-by":"crossref","first-page":"2752","DOI":"10.1073\/pnas.80.9.2752","volume":"80","author":"Sly","year":"1983","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.1380010404-BIB11","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1056\/NEJM198507183130302","volume":"313","author":"Sly","year":"1985","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.1380010404-BIB12","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/BF02171561","volume":"149","author":"Strisciuglio","year":"1990","journal-title":"Eur J Pediatr"},{"key":"10.1002\/humu.1380010404-BIB13","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1111\/j.1651-2227.1972.tb15859.x","volume":"61","author":"Vainsel","year":"1972","journal-title":"Acta Paediatr Scand"},{"key":"10.1002\/humu.1380010404-BIB14","first-page":"1082","volume":"49","author":"Venta","year":"1991","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.1380010404-BIB15","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/0002-9343(80)90501-X","volume":"69","author":"Whyte","year":"1980","journal-title":"Am J Med"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.1380010404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.1380010404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:47:58Z","timestamp":1672332478000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.1380010404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1992]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.1380010404","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992]]}}}