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Quantitation of total collagen extractable from dried cartilage samples demonstrated a 50% decrease when compared to an age\u2010related control. This decrease was essentially related to type II collagen. Nevertheless, the \u03b1 chains and the CB peptides of type II collagen had a normal electrophoretic mobility. A significant amount of collagen type I was also detected. The electrophoretic pattern of collagens type IX and XI did not differ significantly from control sample.<\/jats:p><jats:p>The extracellular matrix elaborated by patient chondrocytes cultured in agarose for 10\u201312 days, contained less collagen type II than normal cells. Labelling with <jats:sup>14<\/jats:sup>C\u2010proline of cultured cells showed the presence of pro\u2010collagen and type II collagen chains with a normal electrophoretic mobility, but an \u03b12(I) chain was detectable in the patient material, indicating the presence of collagen type I which supported the tissue findings. The significance of the type II collagen reduction in the patient's cartilage is unclear but it is unlikely to be the primary defect in achondrogenesis type I. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490418","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:57:00Z","timestamp":1118509020000},"page":"439-446","source":"Crossref","is-referenced-by-count":7,"title":["Achondrogenesis type IB (Fraccaro): Study of collagen in the tissue and in chondrocytes cultured in agarose"],"prefix":"10.1002","volume":"49","author":[{"given":"P.","family":"Freisinger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Stanescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Jacob","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Cohen\u2010Solal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Bonaventure","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.15.6624"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(82)90027-7"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"22522","DOI":"10.1016\/S0021-9258(18)41703-6","article-title":"An amino acid substitution (Gly853 \u2192 Glu) in the collagen \u03b11(II) chain produces hypochondrogenesis","volume":"267","author":"Bogaert R","year":"1992","journal-title":"J Biol Chem"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00221955"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80113-6"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.7.433"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00200907"},{"key":"e_1_2_1_9_1","first-page":"894","article-title":"Type II achondrogenesis\u2010hypochondrogenesis: morphologic and immunohistopathologic studies","volume":"43","author":"Godfrey M","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","first-page":"69","article-title":"Quantitative histology of cartilage vascular canals in the human rib. 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