{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:18:27Z","timestamp":1790979507634,"version":"4.1.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2009,5,20]],"date-time":"2009-05-20T00:00:00Z","timestamp":1242777600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2009,11]]},"DOI":"10.1038\/ejhg.2009.76","type":"journal-article","created":{"date-parts":[[2009,5,20]],"date-time":"2009-05-20T06:25:13Z","timestamp":1242800713000},"page":"1411-1416","source":"Crossref","is-referenced-by-count":45,"title":["Homozygosity for a null allele of COL3A1 results in recessive Ehlers\u2013Danlos syndrome"],"prefix":"10.1038","volume":"17","author":[{"given":"Aur\u00e9lie","family":"Plancke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Holder-Espinasse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Rigau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Manouvrier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille","family":"Claustres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe Khau","family":"Van Kien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,5,20]]},"reference":[{"key":"BFejhg200976_CR1","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","volume":"77","author":"P Beighton","year":"1998","unstructured":"Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ : Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 1998; 77: 31\u201337.","journal-title":"Am J Med Genet"},{"key":"BFejhg200976_CR2","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1056\/NEJM200003093421001","volume":"342","author":"M Pepin","year":"2000","unstructured":"Pepin M, Schwarze U, Superti-Furga A, Byers PH : Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000; 342: 673\u2013680.","journal-title":"N Engl J Med"},{"key":"BFejhg200976_CR3","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1146\/annurev.bi.64.070195.002155","volume":"64","author":"DJ Prockop","year":"1995","unstructured":"Prockop DJ, Kivirikko KI : Collagens: molecular biology, diseases, and potentials for therapy. Annu Rev Biochem 1995; 64: 403\u2013434.","journal-title":"Annu Rev Biochem"},{"key":"BFejhg200976_CR4","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.tig.2003.11.004","volume":"20","author":"J Myllyharju","year":"2004","unstructured":"Myllyharju J, Kivirikko KI : Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet 2004; 20: 33\u201343.","journal-title":"Trends Genet"},{"key":"BFejhg200976_CR5","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1093\/nar\/26.1.253","volume":"26","author":"R Dalgleish","year":"1998","unstructured":"Dalgleish R : The human collagen mutation database 1998. Nucleic Acids Res 1998; 26: 253\u2013255.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg200976_CR6","doi-asserted-by":"publisher","first-page":"1852","DOI":"10.1073\/pnas.94.5.1852","volume":"94","author":"X Liu","year":"1997","unstructured":"Liu X, Wu H, Byrne M, Krane S, Jaenish R : Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. Proc Natl Acad Sci USA 1997; 94: 1852\u20131856.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg200976_CR7","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1086\/324123","volume":"69","author":"U Schwarze","year":"2001","unstructured":"Schwarze U, Schievink WI, Petty E et al: Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Am J Hum Genet 2001; 69: 989\u20131001.","journal-title":"Am J Hum Genet"},{"key":"BFejhg200976_CR8","doi-asserted-by":"publisher","first-page":"2302","DOI":"10.1056\/NEJMcibr040806","volume":"350","author":"DJ Prockop","year":"2004","unstructured":"Prockop DJ : Targeting gene therapy for osteogenesis imperfecta. N Engl J Med 2004; 350: 2302\u20132304.","journal-title":"N Engl J Med"},{"key":"BFejhg200976_CR9","doi-asserted-by":"publisher","first-page":"5271","DOI":"10.1093\/nar\/gki837","volume":"33","author":"C Rene","year":"2005","unstructured":"Rene C, Taulan M, Iral F et al: Binding of serum response factor to cystic fibrosis transmembrane conductance regulator Carg-like elements, as a new potential CFTR transcriptional regulation pathway. Nucleic Acids Res 2005; 33: 5271\u20135290.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg200976_CR10","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","volume":"15","author":"JT den Dunnen","year":"2000","unstructured":"den Dunnen JT, Antonarakis SE : Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7\u201312.","journal-title":"Hum Mutat"},{"key":"BFejhg200976_CR11","doi-asserted-by":"publisher","first-page":"1074","DOI":"10.1038\/sj.ejhg.5201649","volume":"14","author":"M Khajavi","year":"2006","unstructured":"Khajavi M, Inoue K, Lupski JR : Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease. Eur J Hum Genet 2006; 14: 1074\u20131081.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg200976_CR12","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1136\/jmg.14.3.200","volume":"14","author":"FM Pope","year":"1977","unstructured":"Pope FM, Martin GR, McKusick VA : Inheritance of Ehlers-Danlos type IV syndrome. J Med Genet 1977; 14: 200\u2013204.","journal-title":"J Med Genet"},{"key":"BFejhg200976_CR13","doi-asserted-by":"publisher","first-page":"1833","DOI":"10.1101\/gad.1566807","volume":"21","author":"O Isken","year":"2007","unstructured":"Isken O, Maquat LE : Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function. Genes Dev 2007; 21: 1833\u20131856.","journal-title":"Genes Dev"},{"key":"BFejhg200976_CR14","doi-asserted-by":"publisher","first-page":"19259","DOI":"10.1074\/jbc.M414698200","volume":"280","author":"WA Cabral","year":"2005","unstructured":"Cabral WA, Makareeva E, Colige A et al: Mutations near amino end of alpha 1(I) collagen cause combined osteogenesis imperfecta\/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem 2005; 280: 19259\u201319269.","journal-title":"J Biol Chem"},{"key":"BFejhg200976_CR15","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1002\/humu.20647","volume":"29","author":"M Titeux","year":"2008","unstructured":"Titeux M, Pendaries V, Tonasso L, Decha A, Bodemer C, Hovnanian A : A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum Mutat 2008; 29: 267\u2013276.","journal-title":"Hum Mutat"},{"key":"BFejhg200976_CR16","doi-asserted-by":"publisher","first-page":"4542","DOI":"10.1093\/nar\/gkm461","volume":"35","author":"MH Viegas","year":"2007","unstructured":"Viegas MH, Gehring NH, Breit S, Hentze MW, Kulozik AE : The abundance of RNPS1, a protein component of the exon junction complex, can determine the variability in efficiency of the Nonsense Mediated Decay pathway. Nucleic Acids Res 2007; 35: 4542\u20134551.","journal-title":"Nucleic Acids Res"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg200976.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200976","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200976.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T12:59:21Z","timestamp":1684414761000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg200976"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,20]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2009,11]]}},"alternative-id":["BFejhg200976"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2009.76","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,20]]}}}