{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:10:10Z","timestamp":1760735410774,"version":"build-2065373602"},"reference-count":6,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,6]]},"DOI":"10.1136\/jmg.26.6.410","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"410.1-410","source":"Crossref","is-referenced-by-count":0,"title":["Single base pair alterations as the predominant category of mutation in type I osteogenesis imperfecta."],"prefix":"10.1136","volume":"26","author":[{"given":"A J","family":"Brookes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Sykes","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":[[1989,6,1]]},"reference":[{"key":"ref_1","first-page":"69","article-title":"Osteogenesis imperfecta is linked to both type I collagen structural genes","volume":"ii:","author":"Sykes, B.; Ogilvie, D.; Wordsworth, P.; Anderson, J.; Jones, N.","year":"1986","unstructured":"Sykes B, Ogilvie D, Wordsworth P, Anderson J, Jones N. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet 1986;ii:69-72.","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1172\/JCI112012","article-title":"Diminished type I collagen synthesis and reduced alpha 1(1) collagcn messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta","volume":"76","author":"Rowe, D.W.; Shapiro, JR, Poirier; M, Schlesinger; S.","year":"1985","unstructured":"Rowe DW, Shapiro JR, Poirier M, Schlesinger S. Diminished type I collagen synthesis and reduced alpha 1(1) collagcn messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta. J Clin Invest 1985;76:604-1 1.","journal-title":"J Clin Invest"},{"key":"ref_3","first-page":"3838","article-title":"Type I osteogenesis imperfecta: a nonfunctional allelc for proal(l) chains of","volume-title":"type I procollagen. Proc Natl Acad Sci","volume":"79","author":"Barsh, G.S.; David, K.E.; Byers, P.H.","year":"1982","unstructured":"Barsh GS, David KE, Byers PH. Type I osteogenesis imperfecta: a nonfunctional allelc for proal(l) chains of type I procollagen. Proc Natl Acad Sci USA 1982;79:3838-42."},{"key":"ref_4","first-page":"243","article-title":"Osteogcnesis imperfecta","volume-title":"Bail Clin E","volume":"2","author":"Cole, W.G.","year":"1988","unstructured":"Cole WG. Osteogcnesis imperfecta. Bail Clin E 1988;2:243-65."},{"key":"ref_5","first-page":"473","article-title":"A ncw method for detection of small modifications in genomic DNA, applied to the human b-0 globin gene clustcr","volume":"142","author":"Chebloune, Y.; Trabuchet, G.; Poncet, D.","year":"1984","unstructured":"Chebloune Y, Trabuchet G, Poncet D, et al. A ncw method for detection of small modifications in genomic DNA, applied to the human b-0 globin gene clustcr. Eur J Biochem 1984;142: 473-80. h Brookes AJ, Solomon E. Evaluation of the use of S1 nuclease to detect small length variations in genomic DNA. Eur J Biochem (in press).","journal-title":"Eur J Biochem; Brookes AJ, Solomon E. Evaluation of the use of S1 nuclease to detect small length variations in genomic DNA"},{"article-title":"Two of us recently reported an infant with lethal osteogenesis imperfecta associated with a 46, XY, inv(7)(p13c22) karyotype in the Journal of Medical Genetics. The parents are phenotypically normal; the mother has a 46, XX, inv(7)(p13q22) karyotype, and the father has a 46, XY karyotype. Because the gene for the proa2(I) chain of type I procollagen (COLIA2), a component of the principal collagen in bone, is assigned to the long arm of","author":"SIR","key":"ref_6","unstructured":"SIR, Two of us recently reported an infant with lethal osteogenesis imperfecta associated with a 46,XY,inv(7)(p13c22) karyotype in the Journal of Medical Genetics. The parents are phenotypically normal; the mother has a 46,XX,inv(7)(p13q22) karyotype, and the father has a 46,XY karyotype. Because the gene for the proa2(I) chain of type I procollagen (COLIA2), a component of the principal collagen in bone, is assigned to the long arm of chromosome 7 at a site between bands q21 and q22,"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.6.410","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:32:02Z","timestamp":1760733122000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.6.410"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,6]]},"references-count":6,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1989,6,1]]},"published-print":{"date-parts":[[1989,6]]}},"alternative-id":["10.1136\/jmg.26.6.410"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.6.410","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,6]]}}}