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We have demonstrated that the gene does not segregate with clinical expression of the disease and cannot, therefore, contain the mutation responsible for osteogenesis imperfecta in these families.<\/jats:p>","DOI":"10.1136\/jmg.22.3.187","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"187-191","source":"Crossref","is-referenced-by-count":14,"title":["Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta."],"prefix":"10.1136","volume":"22","author":[{"given":"B","family":"Sykes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Vipond","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Paterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Cheah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Solomon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1985,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1981","DOI":"10.1093\/nar\/10.6.1981","article-title":"Isolation and characterisation of a human collagen al(I)-like gene from a cosmid library","volume":"10","author":"Weiss, E.H.; Cheah, K.S.E.; Grosveld, F.G.; Dahl, H.H.L.; Solomon, E.; Flavell, R.A.","year":"1982","unstructured":"Weiss EH, Cheah KSE, Grosveld FG, Dahl HHL, Solomon E, Flavell RA. 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Proc NatI Acad Sci USA (in press)."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1016\/S0140-6736(83)92314-0","article-title":"DNA in heritable disease","volume":"ii:","author":"Sykes, B.C.","year":"1983","unstructured":"Sykes BC. DNA in heritable disease. Lancet 1983;ii:787-8.","journal-title":"Lancet"},{"key":"ref_4","first-page":"141","article-title":"A high frequency Hind III restriction site polymorphism within a collagen gene","volume":"1","author":"Sykes, B.C.","year":"1983","unstructured":"Sykes BC. A high frequency Hind III restriction site polymorphism within a collagen gene. Disease Markers 1983;1:141-6.","journal-title":"Disease Markers"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis inperfecta","volume":"16","author":"Sillence, D.O.; Senn, A.; Danks, D.M.","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM. 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Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an a,(I)-like collagen. Br Med J 1984;288: 431-4.","journal-title":"Br Med J"},{"key":"ref_8","first-page":"454","article-title":"Intraor extragenic deletions are associated with Ehlers Danlos syndrome type II and broad boned lethal osteogenesis imperfecta","volume":"20","author":"Pope, F.M.; Grosveld, F.G.; Nicholls, A.C.","year":"1983","unstructured":"Pope FM, Grosveld FG, Nicholls AC. Intraor extragenic deletions are associated with Ehlers Danlos syndrome type II and broad boned lethal osteogenesis imperfecta. J Med Genet 1983;20:454-8A.","journal-title":"J Med Genet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1380","DOI":"10.1136\/bmj.288.6427.1380-b","article-title":"Lethal osteogenesis imperfecta and a gene deletion","volume":"288","author":"Sykes, B.C.; Ogilvie, D.J.","year":"1984","unstructured":"Sykes BC, Ogilvie DJ. Lethal osteogenesis imperfecta and a gene deletion. Br Med J 1984;288:1380-1.","journal-title":"Br Med J"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1172\/JCI111082","article-title":"Restriction fragment length polymorphism associated with the pro-a2(I) gene of human type 1 procollagen","volume":"72","author":"Tsipouras, P.; Myers, J.C.; Ramirez, F.; Prockop, D.J.","year":"1983","unstructured":"Tsipouras P, Myers JC, Ramirez F, Prockop DJ. Restriction fragment length polymorphism associated with the pro-a2(I) gene of human type 1 procollagen. 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