{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T05:47:06Z","timestamp":1768456026354,"version":"3.49.0"},"reference-count":62,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1985,12]]},"abstract":"<jats:p>Type I collagen is a heteropolymer of alpha 1(I) and alpha 2(I) chains, each of which is a separate product of genes localised to chromosomes 17 and 7 respectively. Molecular defects of type I collagen produce a group of inherited disorders of connective tissue primarily affecting bones, which are easily broken and collagen depleted (osteogenesis imperfecta). Sillence classifies these diseases into four groups, two of which are autosomal dominant and relatively mild, the others being either genetic lethals or responsible for very severe progressive disease. Here we describe two specific molecular abnormalities of type I collagen. One, a cysteine substitution in alpha 1(I) collagen, causes a mild Sillence type I disease, the other, a four base deletion in the C terminal extension of alpha 2(I) collagen, causes progressive Sillence type III disease in the homozygously affected patient and mild premature osteoporosis in his clinically symptomless parents. We have briefly reviewed a variety of other similar mutations causing various OI syndromes, which are tabulated, including various helical and non-helical deletions and a variety of structural protein changes. Several restriction fragment length polymorphisms for alpha 2(I) and alpha 1(II) collagens have also been described, and 5' EcoRI and 3' MspI polymorphisms for alpha 2(I) collagen segregate with Sillence type IV OI.<\/jats:p>","DOI":"10.1136\/jmg.22.6.466","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"466-478","source":"Crossref","is-referenced-by-count":45,"title":["Collagen genes and proteins in osteogenesis imperfecta."],"prefix":"10.1136","volume":"22","author":[{"given":"F M","family":"Pope","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A C","family":"Nicholls","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"McPheat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Talmud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Owen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1985,12,1]]},"reference":[{"key":"ref_1","first-page":"45","volume-title":"The new genetics and clinical practice","author":"Weatherall, D.J.","year":"1983","unstructured":"Weatherall DJ. The new genetics and clinical practice. London: The Nuffield Provincial Hospital Trust, 1983:45-89."},{"key":"ref_2","first-page":"315","volume-title":"Molecular genetics of human haemoglobin. Prog Nucleic Acid Res Mol Biol","volume":"31","author":"Collins, F.S.; Weissman, S.M.","year":"1984","unstructured":"Collins FS, Weissman SM. Molecular genetics of human haemoglobin. Prog Nucleic Acid Res Mol Biol 1984;31:315-462."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/0166-2236(85)90077-3","article-title":"Molecular pathology of the, B-globin gene cluster. Perspective on disease trends","volume":"8","author":"Kazazian, H.H.","year":"1985","unstructured":"Kazazian HH. Molecular pathology of the,B-globin gene cluster. Perspective on disease trends. Trends Neurosciences 1985;8: 192-200.","journal-title":"Trends Neurosciences"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1146\/annurev.bi.49.070180.004521","article-title":"Structurally distinct collagen types","volume":"49","author":"Bornstein, P.; Sage, H.","year":"1980","unstructured":"Bornstein P, Sage H. Structurally distinct collagen types. Annu Rev Biochem 1980;49:957-1003.","journal-title":"Annu Rev Biochem"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1016\/S0006-291X(79)80024-8","article-title":"Collagen heterogeneity in human cartilage. Identification of several new collagen chains","volume":"87","author":"Burgeson, R.E.; Hollister, D.W.","year":"1979","unstructured":"Burgeson RE, Hollister DW. Collagen heterogeneity in human cartilage. Identification of several new collagen chains. Biochem Biophys Res Commun 1979;87:1124-31.","journal-title":"Biochem Biophys Res Commun"},{"issue":"203-1","key":"ref_6","first-page":"1","article-title":"A network model for the organisation of type IV collagen molecules in basement membranes","volume":"120","author":"Timpl, R.; Wiedemann, H.; Van Delden, V.; Furthmayr, H.; Kuhn, K.","year":"1981","unstructured":"Timpl R, Wiedemann H, Van Delden V, Furthmayr H, Kuhn K. A network model for the organisation of type IV collagen molecules in basement membranes. Eur J Biochem 1981 120:203-1 1.","journal-title":"Eur J Biochem"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1042\/bj2110303","article-title":"Electron-microscopical approach to a structural model of internal collagen","volume":"211","year":"1983","unstructured":"Electron-microscopical approach to a structural model of internal collagen. Biochem J 1983;211:303-13.","journal-title":"Biochem J"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3168","DOI":"10.1073\/pnas.80.11.3168","article-title":"Isolation and prenatal characterisation of a new human collagen with an extended triple helical domain","volume":"80","author":"Bentz, H.; Hiorns, P.; Murray, L.W.; Sakin, L.Y.; Burgeson, Hollister D.W.; R.E.","year":"1983","unstructured":"Bentz H, Hiorns P, Murray LW, Sakin LY, Hollister DW. Burgeson RE. Isolation and prenatal characterisation of a new human collagen with an extended triple helical domain. Proc Natl Acad Sci USA 1983;80:3168-72.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"13391","DOI":"10.1016\/S0021-9258(17)44129-9","article-title":"Biosynthetic and structural properties of endothelial cell type VIII collagen","volume":"258","author":"Sage, H.; Trueb, B.; Bornstein, P.","year":"1983","unstructured":"Sage H, Trueb B, Bornstein P. Biosynthetic and structural properties of endothelial cell type VIII collagen. J Biol Che,n 1983;258:13391-401.","journal-title":"J Biol Che"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1042\/bj2110417","article-title":"Identification and partial characterisation of three low molecular-weight collagenous polypeptides synthesised by chondrocytes cultured within collagen gels in the absence and in the presence of fibronectin","volume":"211","author":"Gibson, G.J.; Kielty, C.M.; Garner, C.; Schor, S.L.; Grant, M.E.","year":"1983","unstructured":"Gibson GJ, Kielty CM, Garner C, Schor SL, Grant ME. Identification and partial characterisation of three low molecular-weight collagenous polypeptides synthesised by chondrocytes cultured within collagen gels in the absence and in the presence of fibronectin. Biochem J 1983:211:417-26.","journal-title":"Biochem J"},{"issue":"311","key":"ref_11","first-page":"376","article-title":"Heritable diseases of collagen","volume":"1984","author":"KI, Prockop J.D.Kivirikko","unstructured":"Prockop JD. Kivirikko KI. Heritable diseases of collagen. N Engl J Med 1984:311:376-86.","journal-title":"N Engl J Med"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"3243","DOI":"10.1021\/bi00609a011","article-title":"Procollagen complementary DNA a probe for messenger RNA purification and the number of type I collagen genes","volume":"17","author":"Frischauf, A.M.; Lehrach, H.; Rosner, C.; Boedtker, H.","year":"1978","unstructured":"Frischauf AM, Lehrach H, Rosner C, Boedtker H. Procollagen complementary DNA a probe for messenger RNA purification and the number of type I collagen genes. Biochemistry 1978;17:3243-9.","journal-title":"Biochemistry"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"3212","DOI":"10.1016\/S0021-9258(19)85872-6","article-title":"Isolation and characterisation of a 15 kilobase genomic sequence coding for part of the pro at2 chain of sheep type I collagen","volume":"255","author":"Boyd, C.D.; Tolstoshev, P.; Schafer, M.P.","year":"1980","unstructured":"Boyd CD, Tolstoshev P, Schafer MP, et al. Isolation and characterisation of a 15 kilobase genomic sequence coding for part of the pro at2 chain of sheep type I collagen. J Biol Chem 1980;255:3212-20.","journal-title":"J Biol Chem"},{"issue":"294","key":"ref_14","first-page":"129","article-title":"Structure of the pro a2(1) collagen gene","volume":"1981","author":"Wozney, J.; Tate, Hanahan D.; V, Boedkter H.Doty; P.","unstructured":"Wozney J, Hanahan D. Tate V, Boedkter H. Doty P. Structure of the pro a2(1) collagen gene. Nature 1981:294:129-35.","journal-title":"Nature"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"10128","DOI":"10.1016\/S0021-9258(17)44615-1","article-title":"Analysis of thie 3' end of the human pro ct2(I) collagen gene","volume":"258","author":"Myers, J.C.; Dickson, L.A.; de Wet, W.J.","year":"1983","unstructured":"Myers JC, Dickson LA, de Wet WJ, et al. Analysis of thie 3' end of the human pro ct2(I) collagen gene. J Biol Chemn 1983;258:10128-35.","journal-title":"J Biol Chemn"},{"issue":"310","key":"ref_16","first-page":"337","article-title":"Human pro al(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons","volume":"1984","author":"Chu, M.-L.; de Wet, W.; Bernard, M.","unstructured":"Chu M-L, de Wet W, Bernard M, et al. Human pro al(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. Nature 1984:310:337-40.","journal-title":"Nature"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/310333a0","article-title":"Conservation of the sizes for one but not another class of exons in two chick collagen genes","volume":"310","year":"1984","unstructured":"Conservation of the sizes for one but not another class of exons in two chick collagen genes. Nature 1984;310:333-7.","journal-title":"Nature"},{"key":"ref_18","first-page":"381","article-title":"Assignment of the human pro a2(I) collagen structural gene","volume":"34","author":"Junlen, C.; Weil, D.; Myers, J.C.","year":"1982","unstructured":"Junlen C, Weil D, Myers JC, et al. Assignment of the human pro a2(I) collagen structural gene (COL1A2) to chromosome 7 by molecular hybridization. Am J Hum Genet 1982;34:381-7.","journal-title":"Am J Hum Genet"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"6627","DOI":"10.1073\/pnas.79.21.6627","article-title":"Human type I procollagen genes are located on different chromosomes","volume":"79","author":"Huerre, C.; Junien, C.; Weil, D.","year":"1982","unstructured":"Huerre C, Junien C, Weil D, et al. Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci USA 1982;79:6627-30.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_20","first-page":"3330","article-title":"Chromosomal assignment of the gene coding for human type Il. III and IV collagen: a","volume-title":"dispersed gene family. Proc Natl Acad Sci","volume":"82","author":"Solomon, E.; Hiorns, L.R.; Spurr, N.","year":"1985","unstructured":"(0 Solomon E, Hiorns LR, Spurr N, et al. Chromosomal assignment of the gene coding for human type Il. III and IV collagen: a dispersed gene family. Proc Natl Acad Sci USA 1985;82: 3330-4."},{"key":"ref_21","article-title":"Human al(III) and a2(V) procollagen genes are located on the long arm of chromosome 2","author":"Emanuel, B.S.; Cannizzaro, L.A.; Seyer, J.M.; Myers, J.C.","unstructured":"Emanuel BS, Cannizzaro LA, Seyer JM, Myers JC. Human al(III) and a2(V) procollagen genes are located on the long arm of chromosome 2. J Biol Chem (in press).","journal-title":"J Biol Chem"},{"key":"ref_22","first-page":"390","article-title":"Heritable disorders of connective tissue","author":"McKusick, V.A.","year":"1972","unstructured":"McKusick VA. Heritable disorders of connective tissue. 4th ed. St Louis: Mosby, 1972:390-454.","edition":"4th ed"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/978-1-4615-8315-8_1","article-title":"Genetic disorders of collagen metabolism","volume-title":"Advances in human genetics. Vol 12","author":"Hollister, D.W.; Byers, P.H.; Holbrook, K.A.","year":"1982","unstructured":"Hollister DW, Byers PH, Holbrook KA. Genetic disorders of collagen metabolism. In: Advances in human genetics. Vol 12. New York: Plenum Press, 1982:1-87."},{"key":"ref_24","first-page":"161","article-title":"Zur Kenntnis der Osteogenesis imperfecta congenita und tarda (sogenannte idiopathische Osteopsathyrosis). Mitteilungen aus dem Grenzgebieten der Medizin und Chirurgie","author":"Looser, E.","year":"1906","unstructured":"Looser E. Zur Kenntnis der Osteogenesis imperfecta congenita und tarda (sogenannte idiopathische Osteopsathyrosis). Mitteilungen aus dem Grenzgebieten der Medizin und Chirurgie 1906;161-207."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence, D.O.; Senn, A.; Danks, D.M.","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.","journal-title":"J Med Genet"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/ajmg.1320170204","article-title":"Osteogenesis imperfecta type II. Delineation of the phenotype with reference to genetic heterogeneity","volume":"17","author":"oh Sillence DO; KK, Barlow; AP, Garber; JG, Hall; DL, Rimoin","year":"1984","unstructured":"oh Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL. Osteogenesis imperfecta type II. Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 1984;17:407-23.","journal-title":"Am J Med Genet"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1136\/bmj.288.6411.112","article-title":"An abnormal collagen a chain containing cysteine in autosomal dominant osteogenesis imperfecta","volume":"288","author":"Nicholls, A.C.; Craig, D.; Pope, F.M.","year":"1984","unstructured":"Nicholls AC, Craig D, Pope FM. An abnormal collagen a chain containing cysteine in autosomal dominant osteogenesis imperfecta. Br Med J 1984;288:112-3.","journal-title":"Br Med J"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"11129","DOI":"10.1016\/S0021-9258(18)90631-9","article-title":"Cysteine in the triplc-helical donmain of one allclic product of the al(l) gene of type I collagen produces a Iethal form of osteogenesis imperfecta","volume":"259","author":"R, Steinmann B.Rao V.H.Vogel A.Bruckner P.Kitzelmann; PH, Byers","year":"1984","unstructured":"Steinmann B. Rao VH. Vogel A. Bruckner P. Kitzelmann R, Byers PH. Cysteine in the triplc-helical donmain of one allclic product of the al(l) gene of type I collagen produces a Iethal form of osteogenesis imperfecta. J Biol Chem 1984;259: 11129-38.","journal-title":"J Biol Chem"},{"key":"ref_29","author":"Steinmann, B.; Bvers, P.H.","year":"1985","unstructured":"Steinmann B, Bvers PH. Personal communication. 1985."},{"key":"ref_30","doi-asserted-by":"crossref","DOI":"10.1203\/00006450-198510000-00047","article-title":"Two different cysteine substitutions in the same al(I) CB6 peptide of the (il(1) collagcn chain produce a lethal and a mild form of osteogenesis imperfecta","author":"Steinmann, B.; Nicholls, A.C.; Pope, F.M.","year":"1985","unstructured":"Steinmann B, Nicholls AC, Pope FM. Two different cysteine substitutions in the same al(I) CB6 peptide of the (il(1) collagcn chain produce a lethal and a mild form of osteogenesis imperfecta. Pediatr Res Soc Eur 1985.","journal-title":"Pediatr Res Soc Eur"},{"issue":"21","key":"ref_31","first-page":"257","article-title":"The clinical featur-es of homozygous al(l) collagen deficient osteogenesis imperfecta","volume":"1984","author":"Nicholls, A.C.; Schloon, Osse G.; H.G.","unstructured":"Nicholls AC, Osse G. Schloon HG, et al. The clinical featur-es of homozygous al(l) collagen deficient osteogenesis imperfecta. J Med Genet 1984:21:257-62.","journal-title":"J Med Genet"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1193","DOI":"10.1016\/S0140-6736(79)91872-5","article-title":"Biochemical hcterogeneity of osteogenesis imperfecta","volume":"i:","author":"Nicholls, A.C.; Pope, F.M.; Schloon, H.","year":"1979","unstructured":"Nicholls AC, Pope FM, Schloon H. Biochemical hcterogeneity of osteogenesis imperfecta. Lancet 1979;i:1193-4.","journal-title":"Lancet"},{"key":"ref_33","first-page":"15192","article-title":"The molccular defect in a nonlethal variant of osteogcncsis imperfecta","volume":"258","author":"Deak, S.B.; Nicholls, A.C.; Prockop, Pope F.M.; D.J.","year":"1983","unstructured":"Deak SB, Nicholls AC, Pope FM. Prockop DJ. The molccular defect in a nonlethal variant of osteogcncsis imperfecta. J Biot Chem 1983;258:15192-7.","journal-title":"J Biot Chem"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"4524","DOI":"10.1073\/pnas.81.14.4524","article-title":"Nuclease S1 mapping of a homozygous mutation in the carboxylpropeptidecoding region of the pro a2(I) collagen gene in a patient with osteogenesis imperfecta","volume":"81","author":"Dickson, L.A.; Deak, Pihlajaniemi T.; S.","year":"1984","unstructured":"Dickson LA, Pihlajaniemi T. Deak S, et al. Nuclease S1 mapping of a homozygous mutation in the carboxylpropeptidecoding region of the pro a2(I) collagen gene in a patient with osteogenesis imperfecta. Proc Natl Acad Sci USA 1984;81: 4524-8.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_35","first-page":"23941","article-title":"Osteogenesis imperfecta: cloning of a pro-a2(I) collagen gene with a frameshift mutation","volume":"259","author":"Pihlajaniemi, T.; Pope, Dickson L.A.; F.M.","year":"1984","unstructured":"Pihlajaniemi T, Dickson LA. Pope FM. et al. Osteogenesis imperfecta: cloning of a pro-a2(I) collagen gene with a frameshift mutation. J Biol Chem 1984;259:23941-4.","journal-title":"J Biol Chem"},{"key":"ref_36","first-page":"213","article-title":"Molecular mechanisms of abnormal bone matrix formation in osteogenesis imperfecta","volume-title":"Chemistr'v atuZ biology of minieralized connective tissues","author":"Byers, P.H.; Barsh, G.S.; Peterson, K.E.; Rowe, Holbrook D.A.; D.W.","year":"1981","unstructured":"Byers PH, Barsh GS, Peterson KE, Holbrook DA. Rowe DW. Molecular mechanisms of abnormal bone matrix formation in osteogenesis imperfecta. In: Veis A. ed. Chemistr'v atuZ biology of minieralized connective tissues. Amsterdam: Elsevier\/North Holland, 1981:213-22."},{"issue":"296","key":"ref_37","first-page":"1200","article-title":"Altered relation of two collagen types in osteogenesis imperfecta","volume":"1977","author":"Sykes, B.; Smith, Francis M.J.O.; R.","unstructured":"Sykes B, Francis MJO. Smith R. Altered relation of two collagen types in osteogenesis imperfecta. N Erugl J Med 1977:296:1200-3.","journal-title":"N Erugl J Med"},{"key":"ref_38","first-page":"223","article-title":"Chemtlistrs' anid biology of mineralized connective tissues","author":"Pope, F.M.; Nicholls, A.C.","year":"1981","unstructured":"Pope FM, Nicholls AC. In: Veis A, ed. Chemtlistrs' anid biology of mineralized connective tissues. Amsterdam: Elsevier\/North Holland, 1981:223-7."},{"key":"ref_39","first-page":"5142","article-title":"Abnormal secretion of type I procollagen in a variety","volume-title":"of osteogenesis imperfccta. Proc Natl Acuad Sci USA","volume":"78","author":"Barsh, G.S.; Byers, P.H.","year":"1981","unstructured":"Barsh GS, Byers PH. Abnormal secretion of type I procollagen in a variety of osteogenesis imperfccta. Proc Natl Acuad Sci USA 1981;78:5142-6."},{"key":"ref_40","first-page":"588","article-title":"Abnormal collagen metabolism in cultured cells","volume-title":"osteogcncsis imperfecta. Proc Natl Acad Sci USA 1975","volume":"72","author":"Penttinen, R.P.; Lichtenstein, JR, Martin; GR, McKusick; V.A.","unstructured":"Penttinen RP, Lichtenstein JR, Martin GR, McKusick VA. Abnormal collagen metabolism in cultured cells in osteogcncsis imperfecta. Proc Natl Acad Sci USA 1975:72:588-9."},{"key":"ref_41","first-page":"3838","article-title":"Type I osteogenesis impertecta, a nonfunctional allele for proa(l) chains of","volume-title":"type I collagen. Proc Natl Acad Sci","volume":"79","author":"Barsh, G.S.; David, K.; Byers, P.H.","year":"1982","unstructured":"Barsh GS, David K, Byers PH. Type I osteogenesis impertecta, a nonfunctional allele for proa(l) chains of type I collagen. Proc Natl Acad Sci USA 1982;79:3838-42."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/304078a0","article-title":"Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta","volume":"304","author":"Chu, M.-L.; Pepe, Williams C.J.; G, Hirsch; JL, Prockop; DJ, Ramirez; F.","year":"1983","unstructured":"Chu M-L, Williams CJ. Pepe G, Hirsch JL, Prockop DJ, Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature 1983:304:78-80.","journal-title":"Nature"},{"key":"ref_43","first-page":"5915","article-title":"Synthesis and processing of a typc I procollagen containing shortened procsl(l) chains by fibroblasts from a patient with osteogenesis impcrfecta","author":"Williams, C.J.; Prockop, D.J.","unstructured":"Williams CJ, Prockop DJ. Synthesis and processing of a typc I procollagen containing shortened procsl(l) chains by fibroblasts from a patient with osteogenesis impcrfecta. J Biol Che,n 1983:258:5915-21.","journal-title":"J Biol Che"},{"issue":"36","key":"ref_44","first-page":"501","article-title":"Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen","volume":"1977","author":"Trelstad, R.L.; Rubin, D.; Gross, J.","unstructured":"Trelstad RL, Rubin D, Gross J. Osteogenesis imperfecta congenita: evidence for a generalized molecular disorder of collagen. Lab Invest 1977:36:501-8.","journal-title":"Lab Invest"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"7721","DOI":"10.1016\/S0021-9258(18)32239-7","article-title":"Synthesis of a shortened proa2(I) chain and decreased synthesis of proa2(I) chains in a pro band with osteogenesis imperfecta","volume":"258","author":"de Wet WJ; T, Pihlajaniemi; TE, Myers J.Kelly; DJ, Prockop","year":"1983","unstructured":"de Wet WJ, Pihlajaniemi T, Myers J. Kelly TE, Prockop DJ. Synthesis of a shortened proa2(I) chain and decreased synthesis of proa2(I) chains in a pro band with osteogenesis imperfecta. J Biol Chem 1983;258:7721-8.","journal-title":"J Biol Chem"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1016\/S0021-9258(18)89655-7","article-title":"Byes P1H. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta","volume":"260","author":"RE, Bonadio J.Holbrook K.A.Gelinas; J, Jacob","year":"1985","unstructured":"Bonadio J. Holbrook KA. Gelinas RE, Jacob J, Byes P1H. Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chemn 1985;260: 1734-42.","journal-title":"J Biol Chemn"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/ajmg.1320170206","article-title":"Invited editorial comment. Osteogenesis imperfecta: update and perspective","volume":"17","author":"Byers, P.H.; Steinmann, Bonadio J.F.; B.","year":"1984","unstructured":"Byers PH, Bonadio JF. Steinmann B. Invited editorial comment. Osteogenesis imperfecta: update and perspective. Amn J Med Genet 1984;17:429-35.","journal-title":"Amn J Med Genet"},{"key":"ref_48","first-page":"6179","article-title":"A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose","volume-title":"the COOH-terminal propeptide. Proc Natl Acad Sci","volume":"77","author":"Peltonin, L.; Palotie, A.; Prockop, D.J.","year":"1980","unstructured":"Peltonin L, Palotie A, Prockop DJ. A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide. Proc Natl Acad Sci USA 1980;77:6179-83."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1172\/JCI110815","article-title":"Abnormal a2 chain in type I collagen from a patient with a form of osteogenesis imperfecta","volume":"71","author":"Byers, P.H.; Shapiro, JR, Rowe; DW, David; KE, Holbrook; K.A.","year":"1983","unstructured":"Byers PH, Shapiro JR, Rowe DW, David KE, Holbrook KA. Abnormal a2 chain in type I collagen from a patient with a form of osteogenesis imperfecta. J Clin Invest 1983;71:689-97.","journal-title":"J Clin Invest"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"5631","DOI":"10.1073\/pnas.75.11.5631","article-title":"Polymorphism of DNA sequence adjacent to human fi globin structural gene: relationship to sickle mutation","volume":"75","author":"Kan, Y.W.; Dozy, A.M.","year":"1978","unstructured":"Kan YW, Dozy AM. Polymorphism of DNA sequence adjacent to human fi globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci USA 1978;75:5631-5.","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref_51","first-page":"910","article-title":"Antenatal diagnosis of sickle cell anaemia by DNA analysis of amniotic-fluid cells","volume":"ii:","author":"Kan, Y.W.; Dozy, A.M.","year":"1978","unstructured":"Kan YW, Dozy AM. Antenatal diagnosis of sickle cell anaemia by DNA analysis of amniotic-fluid cells. Lancet 1978;ii:910.","journal-title":"Lancet"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1172\/JCI111082","article-title":"Restriction fragment length polymorphism ascribed with the proa2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta","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 ascribed with the proa2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest 1983;72:1262-7.","journal-title":"J Clin Invest"},{"key":"ref_53","first-page":"1172","article-title":"Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta","volume":"36","author":"Tsipouras, P.; Borresen, A.-L.; Dickson, L.A.; Berg, K.; Prockop, D.J.; Ramirez, F.","year":"1984","unstructured":"Tsipouras P, Borresen A-L, Dickson LA, Berg K, Prockop DJ, Ramirez F. Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta. Am J Hum Genet 1984;36:1172-9.","journal-title":"Am J Hum Genet"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1136\/jmg.22.3.182","article-title":"Polymorphism of DNA sequence in the human proa2(I) collagen gene","volume":"22","author":"Grobler-Rabie, A.F.; Brebner, D.K.; Vandenplas, S.","year":"1985","unstructured":"Grobler-Rabie AF, Brebner DK, Vandenplas S, et al. Polymorphism of DNA sequence in the human proa2(I) collagen gene. J Med Genet 1985;22:182-6.","journal-title":"J Med Genet"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/BF00389452","article-title":"Two new polymorphic markers in the human proa2(I) collagen gene","volume":"70","author":"Brebner, K.; Grobler-Rabie, A.F.; Bester, A.J.; Mathew, C.G.; Boyd, C.D.","year":"1985","unstructured":"Brebner K, Grobler-Rabie AF, Bester AJ, Mathew CG, Boyd CD. Two new polymorphic markers in the human proa2(I) collagen gene. Hum Genet 1985;70:25-7.","journal-title":"Hum Genet"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1136\/bmj.288.6415.431","article-title":"Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an al(I)-like collagen","volume":"288","author":"Pope, F.M.; Cheah, K.S.E.; Nicholls, A.C.; Price, A.B.; Grosveld, F.G.","year":"1984","unstructured":"Pope FM, Cheah KSE, Nicholls AC, Price AB, Grosveld FG. Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an al(I)-like collagen. Br Med J 1984;288: 431-4.","journal-title":"Br Med J"},{"key":"ref_57","first-page":"2555","article-title":"Identification and characterisation of the human type","volume-title":"II collagen gene (COL2A1). Proc Natl Acad Sci","volume":"82","author":"Cheah, K.S.E.; Stoker, N.G.; Griffin, JR, Grosveld; FG, Solomon; E.","year":"1985","unstructured":"Cheah KSE, Stoker NG, Griffin JR, Grosveld FG, Solomon E. Identification and characterisation of the human type II collagen gene (COL2A1). Proc Natl Acad Sci USA 1985;82:2555-9."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"2207","DOI":"10.1093\/nar\/13.7.2207","article-title":"Isolation and partial characterization of the entire human proal(II) collagen gene","volume":"13","author":"Sangiorgi, F.O.; Benson-Chanda, V.; de Wet, W.J.; Sobel, M.E.; Tsipouras, P.; Ramirez, F.","year":"1985","unstructured":"Sangiorgi FO, Benson-Chanda V, de Wet WJ, Sobel ME, Tsipouras P, Ramirez F. Isolation and partial characterization of the entire human proal(II) collagen gene. Nucleic Acids Res 1985;13:2207-25.","journal-title":"Nucleic Acids Res"},{"key":"ref_59","first-page":"138","article-title":"Lethal osteogenesis imperfecta and a gene deletion","volume":"288","author":"Pope, F.M.; Nicholls, A.C.","year":"1984","unstructured":"Pope FM, Nicholls AC. Lethal osteogenesis imperfecta and a gene deletion. Br Med J 1984;288:138.","journal-title":"Br Med J"},{"key":"ref_60","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.; Ogilvie, D.","year":"1984","unstructured":"Sykes B, Ogilvie D. Lethal osteogenesis imperfecta and a gene deletion. Br Med J 1984;288:1380-1.","journal-title":"Br Med J"},{"key":"ref_61","first-page":"138","article-title":"Lethal osteogenesis imperfecta. Is the collagen gene deletion a normal variant rather than a causal mutation?","volume":"22","author":"Sykes, B.; Ogilvie, D.","year":"1985","unstructured":"Sykes B, Ogilvie D. Lethal osteogenesis imperfecta. Is the collagen gene deletion a normal variant rather than a causal mutation? J Med Genet 1985;22:138A.","journal-title":"J Med Genet"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1136\/jmg.22.3.187","article-title":"Exclusion of the al(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta","volume":"22","author":"Sykes, B.; Smith, R.; Vipond, S.; Paterson, C.; Cheah, K.; Solomon, E.","year":"1985","unstructured":"Sykes B, Smith R, Vipond S, Paterson C, Cheah K, Solomon E. Exclusion of the al(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta. J Med Genet 1985;22: 187-97.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.6.466","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:52:24Z","timestamp":1760763144000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.6.466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,12]]},"references-count":62,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1985,12,1]]},"published-print":{"date-parts":[[1985,12]]}},"alternative-id":["10.1136\/jmg.22.6.466"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.6.466","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,12]]}}}