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Linkage studies with restriction fragment length polymorphisms (RFLPs) associated with the COL2A1 gene and the phenotype yielded a maximal LOD score of 4.51 at theta = 0.00. This result suggests that the structural locus for type II collagen is primarily involved in the pathogenesis of this form of SED. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320430516","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:49:25Z","timestamp":1118551765000},"page":"833-838","source":"Crossref","is-referenced-by-count":7,"title":["Spondyloepiphyseal dysplasia in a cape town family: Linkage with the gene for type II collagen (COL2A1)"],"prefix":"10.1002","volume":"43","author":[{"given":"Rajkumar","family":"Ramesar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Beighton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.17.6565"},{"key":"e_1_2_1_3_1","first-page":"896","article-title":"Spondyloepiphyseal dysplasia congenita: Genetic linkage to type II collagen (COL2A1)","volume":"46","author":"Anderson IJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370223"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132186"},{"key":"e_1_2_1_6_1","first-page":"52","article-title":"Nonexpression of cartilage type II collagen in a case of Langer\u2010Saldino achondrogenesis","volume":"39","author":"Eyre DR","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(84)90381-6"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(87)90027-9"},{"key":"e_1_2_1_9_1","first-page":"904","article-title":"Type II achondrogenesis\u2013hypochondrogenesis: Identification of abnormal type II collagen","volume":"43","author":"Godfrey M","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","first-page":"894","article-title":"Type II achondrogenesis\u2013hypochondrogenesis: Morphologic and immunohistopathologic studies","volume":"43","author":"Godfrey M","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0174-173X(85)80023-6"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199002223220807"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.3.1245"},{"key":"e_1_2_1_14_1","first-page":"460","article-title":"Easy calculations of LOD scores and genetic risks on small computers","volume":"36","author":"Lathrop GM","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2543071"},{"key":"e_1_2_1_16_1","first-page":"5","article-title":"Type II collagen defects in the chondrodysplasias: 1. 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