{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T16:10:55Z","timestamp":1774627855630,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2013,4,6]],"date-time":"2013-04-06T00:00:00Z","timestamp":1365206400000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Record"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>\n                    Osteogenesis imperfecta (OI) is a genetic disorder causing defects in the development of collagen type I. Clinical signs of affected dachshunds include multiple fractures of bones, joint hyperlaxity and dentinogenesis imperfecta. Recently, a recessive mutation in the\n                    <jats:bold>\n                      <jats:italic>SERPINH1<\/jats:italic>\n                    <\/jats:bold>\n                    gene was detected in dachshunds and enabled the development of a DNA test to identify dachshunds carrying the mutation. The purpose of the present study was to analyse the dachshund breeding population for the frequency of the\n                    <jats:bold>\n                      <jats:italic>SERPINH1<\/jats:italic>\n                    <\/jats:bold>\n                    mutation among the nine different breed varieties in dachshunds, birth years and countries of origin. We genotyped the OI\u2010associated\n                    <jats:bold>\n                      <jats:italic>SERPINH1<\/jats:italic>\n                    <\/jats:bold>\n                    mutation in 1352 dachshunds from 12 different European countries including all nine varieties. Genotyping was done using a restriction fragment length polymorphism validated by DNA sequence analysis. The overall frequency of OI carriers was 12.9 per cent. Across all different size varieties, the\n                    <jats:bold>\n                      <jats:italic>SERPINH1<\/jats:italic>\n                    <\/jats:bold>\n                    mutation was over\u2010represented in wire\u2010haired dachshunds with 17.3 per cent OI carriers. Among the different countries, the proportion of OI carriers was highest in Germany with 20.4 per cent. The test is useful for dachshund breeders to prevent the occurrence of OI\u2010affected dogs and as a diagnostic tool for veterinarians.\n                  <\/jats:p>","DOI":"10.1136\/vr.101122","type":"journal-article","created":{"date-parts":[[2013,1,12]],"date-time":"2013-01-12T20:30:54Z","timestamp":1358022654000},"page":"364-364","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Population screening for the mutation associated with osteogenesis imperfecta in dachshunds"],"prefix":"10.1002","volume":"172","author":[{"given":"J.","family":"Eckardt","sequence":"first","affiliation":[{"name":"Institute for Animal Breeding and Genetics University of Veterinary Medicine Hannover Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kluth","sequence":"additional","affiliation":[{"name":"Institute for Animal Breeding and Genetics University of Veterinary Medicine Hannover Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Dierks","sequence":"additional","affiliation":[{"name":"Institute for Animal Breeding and Genetics University of Veterinary Medicine Hannover Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Philipp","sequence":"additional","affiliation":[{"name":"Institute for Animal Breeding and Genetics University of Veterinary Medicine Hannover Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Distl","sequence":"additional","affiliation":[{"name":"Institute for Animal Breeding and Genetics University of Veterinary Medicine Hannover Hannover Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.01.015"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1968"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1177808"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.2000.2099"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2001.16.6.1147"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.034"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000579"},{"key":"e_1_2_6_9_1","first-page":"134","article-title":"Influence of inbreeding on litter size and the proportion of stillborn puppies in dachshunds","volume":"118","author":"GRESKY C.","year":"2005","journal-title":"Berliner und M\u00fcnchener Tier\u00e4rztliche Wochenschrift"},{"key":"e_1_2_6_10_1","first-page":"1047","article-title":"Multiple fractures in a collie: osteogenesis imperfecta","volume":"69","author":"HOLMES J. R.","year":"1957","journal-title":"Veterinary Records"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1439-0442.1960.tb00216.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0001029"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.08.039"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr037"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_6_17_1","first-page":"92","article-title":"Osteogenesis imperfecta in 2 collie litter siblings","volume":"54","author":"SCHMIDT V.","year":"1967","journal-title":"Wiener Tier\u00e4rztliche Monatsschrift"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1354\/vp.40-5-530"}],"container-title":["Veterinary Record"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1136%2Fvr.101122","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/bvajournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1136\/vr.101122","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T10:35:53Z","timestamp":1761561353000},"score":1,"resource":{"primary":{"URL":"https:\/\/bvajournals.onlinelibrary.wiley.com\/doi\/10.1136\/vr.101122"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4]]},"references-count":17,"journal-issue":{"issue":"14","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1136\/vr.101122"],"URL":"https:\/\/doi.org\/10.1136\/vr.101122","archive":["Portico"],"relation":{},"ISSN":["0042-4900","2042-7670"],"issn-type":[{"value":"0042-4900","type":"print"},{"value":"2042-7670","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4]]}}}