{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T19:30:43Z","timestamp":1793302243407,"version":"4.5.0"},"reference-count":17,"publisher":"Hindawi Limited","issue":"12","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2465,"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":[[2008,12]]},"DOI":"10.1002\/humu.20799","type":"journal-article","created":{"date-parts":[[2008,6,19]],"date-time":"2008-06-19T16:05:00Z","timestamp":1213891500000},"page":"1435-1442","source":"Crossref","is-referenced-by-count":188,"title":["<i>CRTAP<\/i>and<i>LEPRE1<\/i>mutations in recessive osteogenesis imperfecta"],"prefix":"10.1155","volume":"29","author":[{"given":"Dustin","family":"Baldridge","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schwarze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy","family":"Morello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Lennington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry K.","family":"Bertin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James M.","family":"Pace","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie G.","family":"Pepin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MaryAnn","family":"Weis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Eyre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haynes","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melonie","family":"Michelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunnar","family":"Houge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carl","family":"Lindman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jewell","family":"Ward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Lemyre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Mitchell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Krakow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David L.","family":"Rimoin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel H.","family":"Cohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"10.1002\/humu.20799-BIB1","doi-asserted-by":"crossref","first-page":"2757","DOI":"10.1056\/NEJMoa063804","article-title":"Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta","volume":"355","author":"Barnes","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.20799-BIB2","first-page":"233","article-title":"Congenital anomalies in the Irish Traveller community","volume":"90","author":"Barry","year":"1997","journal-title":"Ir Med J"},{"key":"10.1002\/humu.20799-BIB3","first-page":"285","volume-title":"Connective tissue and it heritable disorders: molecular, genetic, and medical aspects","author":"Byers","year":"2002"},{"key":"10.1002\/humu.20799-BIB4","unstructured":"Cabral WA, Barnes AM, Porter F, Marini JC. 2007a. Carrier frequency of recurring mutation causing severe\/lethal recessive type VIII osteogenesis imperfecta in African-Americans. October 23-27, 57th Annual Meeting of the American Society of Human Genetics, San Diego."},{"key":"10.1002\/humu.20799-BIB5","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1038\/ng1968","article-title":"Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal\/severe osteogenesis imperfecta","volume":"39","author":"Cabral","year":"2007","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20799-BIB6","doi-asserted-by":"crossref","first-page":"S163","DOI":"10.1542\/peds.2006-2023I","article-title":"Experience with bisphosphonates in osteogenesis imperfecta","volume":"119","author":"Glorieux","year":"2007","journal-title":"Pediatrics"},{"key":"10.1002\/humu.20799-BIB7","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/sj.ejhg.5201649","article-title":"Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease","volume":"14","author":"Khajavi","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20799-BIB8","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1006\/scdb.1999.0317","article-title":"Procollagen folding and assembly: the role of endoplasmic reticulum enzymes and molecular chaperones","volume":"10","author":"Lamande","year":"1999","journal-title":"Semin Cell Dev Biol"},{"key":"10.1002\/humu.20799-BIB9","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.cell.2006.08.039","article-title":"CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta","volume":"127","author":"Morello","year":"2006","journal-title":"Cell"},{"key":"10.1002\/humu.20799-BIB10","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.tig.2003.11.004","article-title":"Collagens, modifying enzymes and their mutations in humans, flies and worms","volume":"20","author":"Myllyharju","year":"2004","journal-title":"Trends Genet"},{"key":"10.1002\/humu.20799-BIB11","doi-asserted-by":"crossref","first-page":"12941","DOI":"10.1016\/S0021-9258(18)90635-6","article-title":"Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation","volume":"259","author":"Pihlajaniemi","year":"1984","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20799-BIB12","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","article-title":"Osteogenesis imperfecta","volume":"363","author":"Rauch","year":"2004","journal-title":"Lancet"},{"key":"10.1002\/humu.20799-BIB13","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/S0140-6736(78)90763-8","article-title":"Classification of osteogenesis imperfect","volume":"1","author":"Sillence","year":"1978","journal-title":"Lancet"},{"key":"10.1002\/humu.20799-BIB14","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1136\/adc.82.1.32","article-title":"Health care needs of Travellers","volume":"82","author":"Van Cleemput","year":"2000","journal-title":"Arch Dis Child"},{"key":"10.1002\/humu.20799-BIB15","doi-asserted-by":"crossref","first-page":"23615","DOI":"10.1074\/jbc.M312807200","article-title":"Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes","volume":"279","author":"Vranka","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20799-BIB16","first-page":"975","article-title":"Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta","volume":"46","author":"Wenstrup","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20799-BIB17","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/j.1399-0004.1989.tb02926.x","article-title":"Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta","volume":"35","author":"Williams","year":"1989","journal-title":"Clin Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20799","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20799","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:51:16Z","timestamp":1672332676000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20799"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12]]},"references-count":17,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2008,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20799","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12]]}}}