{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T20:42:08Z","timestamp":1770324128582,"version":"3.49.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1989,5,1]],"date-time":"1989-05-01T00:00:00Z","timestamp":609984000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1989,5]]},"DOI":"10.1007\/bf00284038","type":"journal-article","created":{"date-parts":[[2004,10,4]],"date-time":"2004-10-04T05:31:11Z","timestamp":1096867871000},"page":"104-108","source":"Crossref","is-referenced-by-count":78,"title":["Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV"],"prefix":"10.1007","volume":"82","author":[{"given":"Andrea","family":"Superti-Furga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beat","family":"Steinmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Ramirez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter H.","family":"Byers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1111\/j.1365-2362.1988.tb02415.x","volume":"18","author":"M Aumailley","year":"1988","unstructured":"Aumailley M, Poschl E, Martin GR, Yamada, Y, Muller PK (1988) Low production of procollagen III by skin fibroblasts from patients with Ehlers-Danlos syndrome type IV is not caused by decreased levels of procollagen III mRNA. Eur J Clin Invest 18: 207?212","journal-title":"Eur J Clin Invest"},{"key":"CR2","doi-asserted-by":"crossref","unstructured":"Benson-Chanda V, Su MW, Weil D, Chu ML, Ramirez F (1989) Cloning and analysis of the 5? portion of the human type III procollagen gene (COL3A1). Gene (in press)","DOI":"10.1016\/0378-1119(89)90228-X"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/0003-2697(81)90204-9","volume":"110","author":"P Bruckner","year":"1981","unstructured":"Bruckner P, Prockop DJ (1981) Proteolytic enzymes as probes for the triple-helical conformation of procollagen. Anal Biochem 110: 360?368","journal-title":"Anal Biochem"},{"key":"CR4","first-page":"336","volume":"44","author":"PH Byers","year":"1981","unstructured":"Byers PH, Holbrook KA, Barsh GS, Smith LT, Bornstein P (1981) Altered secretion of type III procollagen in a form of type IV. Ehlers-Danlos syndrome. Lab Invest 44:336?341","journal-title":"Lab Invest"},{"key":"CR5","first-page":"836","volume-title":"Principles and practice of medical genetics","author":"PH Byers","year":"1983","unstructured":"Byers PH, Holbrook KA, Barsh GS (1983) Ehlers-Danlos syndrome. In: Emery AEH, Rimoin DL (eds) Principles and practice of medical genetics. Churchill-Livingstone, Edinburgh, pp 836?850"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1159\/000413463","volume":"16","author":"PH Byers","year":"1987","unstructured":"Byers PH, Wenstrup RJ, Bonadio JF, Starman B, Cohn DH (1987) Molecular basis of inherited disorders of collagen biosynthesis: implications for prenatal diagnosis. Curr Probl Dermatol 16:158?174","journal-title":"Curr Probl Dermatol"},{"key":"CR7","first-page":"237","volume":"42","author":"PH Byers","year":"1988","unstructured":"Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC (1988) Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 42:237?248","journal-title":"Am J Hum Genet"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/304078a0","volume":"304","author":"ML Chu","year":"1983","unstructured":"Chu ML, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F (1983) Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature 304:78?80","journal-title":"Nature"},{"key":"CR9","first-page":"505","volume":"8","author":"KE Kadler","year":"1988","unstructured":"Kadler KE, Vogel BE, Hojima Y, Prockop DJ (1988) A type I collagen with a cysteine-kink produces collagen fibrils with frayed end and limits polymerization of the normal monomer. Coll Relat Res 8:505?506","journal-title":"Coll Relat Res"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/j.1432-1033.1975.tb02238.x","volume":"56","author":"RA Laskey","year":"1975","unstructured":"Laskey RA, Mills AD (1975) Quantitative film detection of 3H and 14C in polyacrylamide gels by fluorography. Eur J Biochem 56: 335?341","journal-title":"Eur J Biochem"},{"key":"CR11","volume-title":"Molecular cloning: a laboratory manual","year":"1982","unstructured":"Maniatis T, Fritsch EF, Sambrook J (eds) (1982) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1007\/BF00291676","volume":"78","author":"AC Nicholls","year":"1988","unstructured":"Nicholls AC, De Paepe A, Narcisi P, Dalgleish R, De Keyser F, Matton M, Pope FM (1988) Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree. Hum Genet 78:276?281","journal-title":"Hum Genet"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"1314","DOI":"10.1073\/pnas.72.4.1314","volume":"72","author":"FM Pope","year":"1975","unstructured":"Pope FM, Martin GR, Lichtenstein JR, Penttinen R, Gerson B, Rowe DW, McKusick VA (1975) Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci USA 72:1314?1316","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR14","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1136\/jmg.14.3.200","volume":"14","author":"FM Pope","year":"1977","unstructured":"Pope FM, Martin GR, McKusick VA (1977) Inheritance of Ehlers-Danlos type IV syndrome. J Med Genet 14:200?204","journal-title":"J Med Genet"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1177\/014107688007300305","volume":"73","author":"FM Pope","year":"1980","unstructured":"Pope FM, Nicholls AC, Jones PM, Wells RS, Lawrence D (1980) EDS IV (acrogeria): new autosomal dominant and recessive types. J R Soc Med 73:180?185","journal-title":"J R Soc Med"},{"key":"CR16","first-page":"341","volume-title":"Human genes and diseases","author":"F Ramirez","year":"1986","unstructured":"Ramirez F, Sangiorgi FO, Tsipouras P (1986) Human collagens: biochemical, molecular and genetic features in normal and diseased states. In: Blasi F (ed) Human genes and diseases. Wiley, Chichester New York, pp 341?375"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"11129","DOI":"10.1016\/S0021-9258(18)90631-9","volume":"259","author":"B Steinmann","year":"1984","unstructured":"Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann R, Byers PH (1984) Cysteine in the triple-helical domain of one allelic product of the ?1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem 259:11129?11138","journal-title":"J Biol Chem"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/j.1749-6632.1988.tb55315.x","volume":"543","author":"B Steinmann","year":"1988","unstructured":"Steinmann B, Superti-Furga A, Royce PM (1988) Imperfect collagenesis in osteogenesis imperfecta. Ann NY Acad Sci 543:47?61","journal-title":"Ann NY Acad Sci"},{"key":"CR19","doi-asserted-by":"crossref","unstructured":"Steinmann B, Superti-Furga A, Joller-Jemelka HI, Cetta G, Byers PH (1989) Ehlers-Danlos syndrome type IV ? a subset of patients distinguished by low serum levels of the aminoterminal propeptide of type III procollagen. Am J Med Genet 33 (in press)","DOI":"10.1002\/ajmg.1320340113"},{"key":"CR20","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1016\/S0021-9258(18)89682-X","volume":"260","author":"CA Stolle","year":"1985","unstructured":"Stolle CA, Pyeritz RE, Myers JC, Prockop DJ (1985) Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. J Biol Chem 260:1937?1944","journal-title":"J Biol Chem"},{"key":"CR21","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/0006-291X(88)90497-4","volume":"150","author":"A Superti-Furga","year":"1988","unstructured":"Superti-Furga A, Steinmann B (1988) Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule. Biochem Biophys Res Commun 150:140?147","journal-title":"Biochem Biophys Res Commun"},{"key":"CR22","doi-asserted-by":"crossref","first-page":"6226","DOI":"10.1016\/S0021-9258(18)68776-9","volume":"263","author":"A Superti-Furga","year":"1988","unstructured":"Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B (1988) Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the tow COL3A1 alleles affecting structure, stability and processing of type III procollagen. J Biol Chem 263:6226?6232","journal-title":"J Biol Chem"},{"key":"CR23","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/j.1365-2133.1988.tb01745.x","volume":"118","author":"AS Temple","year":"1988","unstructured":"Temple AS, Hinton P, Narcisi P, Pope FM (1988) Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence. Br J Dermatol 118: 17?26","journal-title":"Br J Dermatol"},{"key":"CR24","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00278783","volume":"74","author":"P Tsipouras","year":"1986","unstructured":"Tsipouras P, Byers PH, Schwartz RC, Chu ML, Weil D, Pepe G, Cassidy SB, Ramirez F (1986) Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet 74:41?46","journal-title":"Hum Genet"},{"key":"CR25","doi-asserted-by":"crossref","first-page":"8398","DOI":"10.1016\/S0021-9258(18)68491-1","volume":"263","author":"MC Willing","year":"1988","unstructured":"Willing MC, Cohn DH, Starman B, Holbrook K, Greenberg CR, Byers PH (1988) Heterozygosity for a large deletion in the ?2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J Biol Chem 263:8398?8404","journal-title":"J Biol Chem"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00284038.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00284038\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00284038","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,26]],"date-time":"2021-06-26T03:58:19Z","timestamp":1624679899000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00284038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,5]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,5]]}},"alternative-id":["BF00284038"],"URL":"https:\/\/doi.org\/10.1007\/bf00284038","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,5]]}}}