{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T18:09:13Z","timestamp":1782583753725,"version":"3.54.5"},"reference-count":18,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"4907","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1989,5,26]]},"abstract":"<jats:p>Spondyloepiphyseal dysplasias (SED) are a heterogeneous group of inherited disorders characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. Evidence has suggested that SED may result from structural defects in type II collagen. To confirm the validity of this hypothesis, the structure of the \"candidate\" type II collagen gene (COL2A1) has been directly examined in a relatively large SED family. Coarse scanning of the gene by Southern blot hybridization identified an abnormal restriction pattern in one of the affected members of the kindred. Analysis of selected genomic fragments, amplified by the polymerase chain reaction, precisely localized the molecular defect and demonstrated that all affected family members carried the same heterozygous single-exon deletion. As a consequence of the mutation, nearly 90 percent of the assembled type II collagen homotrimers are expected to contain one or more procollagen subunits harboring an interstitial deletion of 36 amino acids in the triple helical domain.<\/jats:p>","DOI":"10.1126\/science.2543071","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T21:21:28Z","timestamp":1160083288000},"page":"978-980","source":"Crossref","is-referenced-by-count":189,"title":["Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia"],"prefix":"10.1126","volume":"244","author":[{"given":"Brendan","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Microbiology and Immunology, Morse Institute for Molecular Genetics, State University of New York Health Science Center, Brooklyn 11203."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henrik","family":"Vissing","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, Morse Institute for Molecular Genetics, State University of New York Health Science Center, Brooklyn 11203."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Ramirez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Genetics-Birth Defect Center, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Rogers","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Genetics-Birth Defect Center, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Rimoin","sequence":"additional","affiliation":[{"name":"Department of Microbiology and Immunology, Morse Institute for Molecular Genetics, State University of New York Health Science Center, Brooklyn 11203."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"221","reference":[{"key":"e_1_2_1_1_1","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/316363a0","volume":"316","year":"1985","unstructured":"BONADIO, J, SUBTLE STRUCTURAL ALTERATIONS IN THE CHAINS OF TYPE-I PROCOLLAGEN PRODUCE OSTEOGENESIS IMPERFECTA TYPE-II, NATURE 316: 363 (1985).","journal-title":"NATURE"},{"key":"e_1_2_1_2_1","first-page":"2555","volume":"82","year":"1985","unstructured":"CHEAH, KSE, IDENTIFICATION AND CHARACTERIZATION OF THE HUMAN TYPE-II COLLAGEN GENE (COL2A1), PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 82: 2555 (1985).","journal-title":"PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA"},{"key":"e_1_2_1_3_1","first-page":"52","volume":"39","year":"1986","unstructured":"EYRE, D.R., NONEXPRESSION OF CARTILAGE TYPE-II COLLAGEN IN A CASE OF LANGER-SALDINO ACHONDROGENESIS, AMERICAN JOURNAL OF HUMAN GENETICS 39: 52 (1986).","journal-title":"AMERICAN JOURNAL OF HUMAN GENETICS"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/0888-7543(87)90027-9","volume":"1","year":"1987","unstructured":"FRANCOMANO, C.A., GENOMICS 1: 293 (1987).","journal-title":"GENOMICS"},{"key":"e_1_2_1_5_1","first-page":"904","volume":"43","year":"1988","unstructured":"GODFREY, M, TYPE-II ACHONDROGENESIS-HYPOCHONDROGENESIS - IDENTIFICATION OF ABNORMAL TYPE-II COLLAGEN, AMERICAN JOURNAL OF HUMAN GENETICS 43: 904 (1988).","journal-title":"AMERICAN JOURNAL OF HUMAN GENETICS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/0003-2697(86)90403-3","volume":"152","year":"1986","unstructured":"HATTORI, M, ANALYTICAL BIOCHEMISTRY 152: 232 (1986).","journal-title":"ANALYTICAL BIOCHEMISTRY"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/S0174-173X(85)80023-6","volume":"5","year":"1985","unstructured":"HORTON, W.A., CARTILAGE COLLAGEN ANALYSIS IN THE CHONDRODYSTROPHIES, COLLAGEN AND RELATED RESEARCH 5: 349 (1985).","journal-title":"COLLAGEN AND RELATED RESEARCH"},{"key":"e_1_2_1_8_1","unstructured":"Maniatis T. 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