{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T11:03:59Z","timestamp":1758279839919},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1986,5,1]],"date-time":"1986-05-01T00:00:00Z","timestamp":515289600000},"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":[[1986,5]]},"DOI":"10.1007\/bf00292673","type":"journal-article","created":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T12:17:31Z","timestamp":1097237851000},"page":"91-92","source":"Crossref","is-referenced-by-count":15,"title":["Length polymorphism in the pro ?2(I) collagen gene: an alternative explanation in a case of Marfan syndrome"],"prefix":"10.1007","volume":"73","author":[{"given":"R.","family":"Dalgleish","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. R.","family":"Hawkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/BF00389452","volume":"70","author":"DK Brebner","year":"1985","unstructured":"Brebner DK, Grobler-Rabie AF, Bester AJ, Mathew CG, Boyd CD (1985) Two new polymorphic markers in the human pro ?2(I) collagen gene. Hum Genet 70:25?27","journal-title":"Hum Genet"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"7745","DOI":"10.1073\/pnas.78.12.7745","volume":"78","author":"PH Byers","year":"1981","unstructured":"Byers PH, Siegel RC, Peterson KE, Rowe DW, Holbrook KA, Smith LT, Chang Y-H, Fu JCC (1981) Marfan syndrome: abnormal ?2 chain in type I collagen. Proc Natl Acad Sci USA 78:7745?7749","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"13816","DOI":"10.1016\/S0021-9258(18)33521-X","volume":"257","author":"R Dalgleish","year":"1982","unstructured":"Dalgleish R, Trapnell BC, Crystal RG, Tolstoshey P (1982) Copy number of a human type I ?2 collagen gene. J Biol Chem 257:13816?13822","journal-title":"J Biol Chem"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/0003-2697(83)90418-9","volume":"132","author":"AP Feinberg","year":"1923","unstructured":"Feinberg AP, Vogelstein B (1923) A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132:6?13","journal-title":"Anal Biochem"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/0003-2697(84)90381-6","volume":"137","author":"AP Feinberg","year":"1984","unstructured":"Feinberg AP, Vogelstein B (1984) Addendum. A technique for radiolabelling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 137:266?267","journal-title":"Anal Biochem"},{"key":"CR6","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1136\/jmg.22.3.182","volume":"22","author":"AF Grobler-Rabie","year":"1985","unstructured":"Grobler-Rabie AF, Brebner DK, Vandenplas S, Wallis G, Dalgleish R, Kaufman RE, Bester AJ, Mathew CGP, Boyd CD (1985a) Polymorphism of DNA sequence in the human pro ?2(I) collagen gene. J Med Genet 22:182?186","journal-title":"J Med Genet"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"1745","DOI":"10.1002\/j.1460-2075.1985.tb03845.x","volume":"4","author":"AF Grobler-Rabie","year":"1985","unstructured":"Grobler-Rabie AF, Wallis G, Brebner DK, Beighton P, Bester AJ, Mathew CG (1985b) Detection of a high frequency RsaI polymorphism in the human pro ?2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J 4:1745?1748","journal-title":"EMBO J"},{"key":"CR8","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1002\/jcb.240270210","volume":"27","author":"E Henke","year":"1985","unstructured":"Henke E, Leader M, Tajima S, Pinnell S, Kaufman R (1985) A 38 base pair insertion in the pro ?2(I) collagen gene of a patient with Marfan syndrome. J Cell Biochem 27:161?174","journal-title":"J Cell Biochem"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1432-1033.1985.tb08725.x","volume":"147","author":"A Pingoud","year":"1985","unstructured":"Pingoud A (1985) Spermidine increases the accuracy of type II restriction enzymes. Eur J Biochem 147:105?109","journal-title":"Eur J Biochem"},{"key":"CR10","first-page":"1425","volume-title":"The metabolic basis of inherited disease","author":"SR Pinnell","year":"1983","unstructured":"Pinnell SR, Marud S (1983) In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 1425?1449","edition":"5th edn."},{"key":"CR11","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1136\/bmj.288.6415.431","volume":"288","author":"FM Pope","year":"1984","unstructured":"Pope FM, Cheah KSE, Nicholls AC, Price AB, Grosveld FG (1984) Lethal osteogenesis imperfeeta congenita and a 300 base pair deletion for an ?1(I)-like collagen. Br Med J 288:431?434","journal-title":"Br Med J"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1056\/NEJM197904053001406","volume":"300","author":"RE Pyeritz","year":"1979","unstructured":"Pyeritz RE, McKusick VA (1979) The Marfan syndrome: diagnosis and management. N Engl J Med 300:772?777","journal-title":"N Engl J Med"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"4613","DOI":"10.1093\/nar\/13.13.4613","volume":"13","author":"NG Stoker","year":"1985","unstructured":"Stoker NG, Cheah KSE, Griffin JR, Pope EM, Solomon E (1985) A highly polymorphic region 3? to the human type II collagen gene. Nucleic Acids Res 13:4613?4622","journal-title":"Nucleic Acids Res"},{"key":"CR14","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF00389455","volume":"70","author":"BC Sykes","year":"1985","unstructured":"Sykes BC, Ogilvie DJ, Wordsworth BP (1985) Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation. Hum Genet 70:35?37","journal-title":"Hum Genet"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/1523-1747.ep12260213","volume":"82","author":"S Tajima","year":"1984","unstructured":"Tajima S, Ting JPY, Pinnell SR, Kaufman RE (1984) Isolation and characterization of a human pro ?2(I) collagen gene segment. J Invest Dermatol 82:265?269","journal-title":"J Invest Dermatol"},{"key":"CR16","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1172\/JCI111082","volume":"72","author":"P Tsipouras","year":"1983","unstructured":"Tsipouras P, Myers JC, Ramirez F, Prokop DJ (1983) Restriction fragment length polymorphism associated with the pro ?2(I) gene of human type I procollagen. J Clin Invest 72:1262?1267","journal-title":"J Clin Invest"},{"key":"CR17","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/0378-1119(82)90015-4","volume":"19","author":"J Vieira","year":"1982","unstructured":"Vieira J, Messing J (1982) The pUC plasmids, an M13mp7-derived system for insertion mutagenesis and sequencing with synthetic universal primers. Gene 19:259?268","journal-title":"Gene"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00292673.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00292673\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00292673","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,26]],"date-time":"2021-06-26T08:36:51Z","timestamp":1624696611000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00292673"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,5]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1986,5]]}},"alternative-id":["BF00292673"],"URL":"https:\/\/doi.org\/10.1007\/bf00292673","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,5]]}}}