{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T02:18:33Z","timestamp":1744165113316},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[1985,5,1]],"date-time":"1985-05-01T00:00:00Z","timestamp":483753600000},"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":[[1985,5]]},"DOI":"10.1007\/bf00389452","type":"journal-article","created":{"date-parts":[[2004,11,8]],"date-time":"2004-11-08T03:35:27Z","timestamp":1099884927000},"page":"25-27","source":"Crossref","is-referenced-by-count":15,"title":["Two new polymorphic markers in the human pro?2(1) collagen gene"],"prefix":"10.1007","volume":"70","author":[{"given":"Diana K.","family":"Brebner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne F.","family":"Grobler-Rabie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. J.","family":"Bester","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. G.","family":"Mathew","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. D.","family":"Boyd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"CR1","doi-asserted-by":"crossref","unstructured":"Beighton P, Versfeld GA (1985) On the paradoxically high relative prevalence of osteogenesis imperfecta Type III in the Black population of South Africa. Clin Genet (in press)","DOI":"10.1111\/j.1399-0004.1985.tb02282.x"},{"key":"CR2","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1021\/bi00274a023","volume":"22","author":"MP Bernard","year":"1983","unstructured":"Bernard MP, Myers JC, Chu M-L, Ramirez F, Eikenberry EF, Prockop DJ (1983) Structure of a cDNA for the pro?2(1) chain of human type I procollagen. Comparison with chick cDNA for pro?2(1) identifies structurally conserved features of the protein and the gene. Biochemistry 22:1139?1145","journal-title":"Biochemistry"},{"key":"CR3","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.1056\/NEJM198305053081803","volume":"308","author":"CD Boehm","year":"1983","unstructured":"Boehm CD, Antonarakis SE, Phillips JA, Stetten G, Kazazian HH (1983) Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or ?-thalassemia. N Engl J Med 308:1054?1058","journal-title":"N Engl J Med"},{"key":"CR4","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/310337a0","volume":"310","author":"M-L Chu","year":"1984","unstructured":"Chu M-L, de Wet W, Bernard M, Ding J-F, Marabito M, Myers J, Williams C, Ramirez F (1984) Human pro?1 (1) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. Nature 310:337?340","journal-title":"Nature"},{"key":"CR5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF00275182","volume":"66","author":"DN Cooper","year":"1984","unstructured":"Cooper DN, Schmidtke J (1984) DNA restriction fragment length polymorphisms and heterozygosity in the human genome. Hum Genet 66:1?16","journal-title":"Hum Genet"},{"key":"CR6","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, Tolstoshev P (1982) Copy number of a human type 1 ?2 collagen gene. J Biol Chem 257:13816?13822","journal-title":"J Biol Chem"},{"key":"CR7","doi-asserted-by":"crossref","first-page":"7721","DOI":"10.1016\/S0021-9258(18)32239-7","volume":"258","author":"WJ Wet de","year":"1983","unstructured":"de Wet WJ, Pihlajaniemi T, Myers J, Kelly TE, Prockop DJ (1983) Synthesis of a shortened pro?2 (1) chain and decreased synthesis of pro?2 chains in a proband with osteogenesis imperfecta. J Biol Chem 258:7721?7728","journal-title":"J Biol Chem"},{"key":"CR8","doi-asserted-by":"crossref","unstructured":"Grobler-Rabie AF, Brebner DK, Vandenplas S, Wallis G, Dalgleish R, Kaufman RE, Bester AJ, Mathew CGP, Boyd CD (in press) Polymorphism of DNA sequences in the human pro?2 (1) collagen gene. J Med Genet (in press)","DOI":"10.1136\/jmg.22.3.182"},{"key":"CR9","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1159\/000131978","volume":"36","author":"AS Henderson","year":"1983","unstructured":"Henderson AS, Myers JC, Ramirez F (1983) Localization of the human 2(1) collagen gene (COLIA2) to chromosome 7q22. Cytogenet Cell Genet 36:586?587","journal-title":"Cytogenet Cell Genet"},{"key":"CR10","doi-asserted-by":"crossref","first-page":"6627","DOI":"10.1073\/pnas.79.21.6627","volume":"79","author":"C Huerre","year":"1982","unstructured":"Huerre C, Junien C, Weil D, Chu M-L, Morabito M, Van Cong N, Myers JC, Foubert C, Gross M-S, Prockop DJ, Bou\u00e9 A, Kaplan J-C, de la Chapelle A, Ramirez F (1982) Human type 1 procollagen genes are located on different chromosomes. Proc Natl Acad Sci USA 79:6627?6630","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR11","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1126\/science.7384810","volume":"209","author":"YW Kan","year":"1980","unstructured":"Kan YW, Dozy AM (1980) Evolution of the hemoglobin S and C genes in World Populations. Science 209:388?390","journal-title":"Science"},{"key":"CR12","doi-asserted-by":"crossref","first-page":"3516","DOI":"10.1073\/pnas.78.6.3516","volume":"78","author":"JC Myers","year":"1981","unstructured":"Myers JC, Chu M-L, Faro SH, Clark WJ, Prockop DJ, Ramirez F (1981) Cloning a cDNA for the pro?2 chain of human type 1 collagen. Proc Natl Acad Sci USA 78:3516?3520","journal-title":"Proc Natl Acad Sci USA"},{"key":"CR13","doi-asserted-by":"crossref","first-page":"10128","DOI":"10.1016\/S0021-9258(17)44615-1","volume":"258","author":"JC Myers","year":"1983","unstructured":"Myers JC, Dickson LA, de Wet WJ, Bernard MP, Chu M-L, Di Liberto M, Pepe G, Sangiorgi FO, Ramirez F (1983) Analysis of the 3? end of the human pro?2 (1) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts. J Biol Chem 258:10128?10135","journal-title":"J Biol Chem"},{"key":"CR14","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1056\/NEJM198408093110606","volume":"311","author":"DJ Prockop","year":"1984","unstructured":"Prockop DJ, Kivirikko KI (1984) Heritable diseases of collagen. N Engl J Med 311:376?386","journal-title":"N Engl J Med"},{"key":"CR15","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1159\/000131687","volume":"32","author":"MH Skolnick","year":"1982","unstructured":"Skolnick MH, White R (1982) Strategies for detecting and characterizing restriction fragment length polymorphisms (RFLPs). Cytogenet Cell Genet 32:58?67","journal-title":"Cytogenet Cell Genet"},{"key":"CR16","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 (1) collagen gene segment. J Invest Dermatol 82:265?269","journal-title":"J Invest Dermatol"},{"key":"CR17","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, Prockop DJ (1983) Restriction fragment length polymorphism associated with the pro?2(1) gene of human type 1 procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest 72:1262?1267","journal-title":"J Clin Invest"},{"key":"CR18","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1136\/jmg.21.3.164","volume":"21","author":"S Vandenplas","year":"1984","unstructured":"Vandenplas S, Wiid I, Grobler-Rabie A, Brebner K, Ricketts M, Bester AJ, Boyd C, Mathew C (1984) Blot hybridisation analysis of genomic DNA. J Med Genet 21:164?172","journal-title":"J Med Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00389452.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00389452\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00389452","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,27]],"date-time":"2021-06-27T21:30:44Z","timestamp":1624829444000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00389452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,5]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1985,5]]}},"alternative-id":["BF00389452"],"URL":"https:\/\/doi.org\/10.1007\/bf00389452","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,5]]}}}