{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T21:38:26Z","timestamp":1777930706723,"version":"3.51.4"},"reference-count":25,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2017,12,22]],"date-time":"2017-12-22T00:00:00Z","timestamp":1513900800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J VET Diagn Invest"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:p>von Willebrand disease (vWD) is the most common inherited coagulopathy in dogs, particularly in Doberman Pinschers. We developed a pyrosequencing-based assay to estimate the frequency of the c.7437G&gt;A mutation associated with vWD type 1 in the Doberman Pinscher population of Buenos Aires, Argentina. We found a 0.41 frequency for the mutated allele, which varied significantly within families (family 1 = 0.43, family 2 = 0.58, unrelated animals = 0.35). The use of a popular founder male carrier of mutant allele A increased vWD incidence within a family and in the general population. The mode of inheritance was confirmed as autosomal dominant with incomplete penetrance. No differences were found between sexes and coat colors. Pyrosequencing was a good complement to clinical and coagulation tests for vWD type 1 diagnosis and a useful alternative for detecting the c.7437G&gt;A mutation.<\/jats:p>","DOI":"10.1177\/1040638717750429","type":"journal-article","created":{"date-parts":[[2017,12,23]],"date-time":"2017-12-23T17:03:15Z","timestamp":1514048595000},"page":"310-314","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina"],"prefix":"10.1177","volume":"30","author":[{"given":"Julian A.","family":"Crespi","sequence":"first","affiliation":[{"name":"Instituto de Gen\u00e9tica Veterinaria, Facultad de Ciencias Veterinarias, La Plata, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura S.","family":"Barrientos","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Veterinaria, Facultad de Ciencias Veterinarias, La Plata, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Giovambattista","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Veterinaria, Facultad de Ciencias Veterinarias, La Plata, Buenos Aires, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,12,22]]},"reference":[{"key":"bibr1-1040638717750429","doi-asserted-by":"publisher","DOI":"10.1111\/j.1476-4431.2011.00702.x"},{"key":"bibr2-1040638717750429","first-page":"45","volume":"3","author":"Brewer GJ.","year":"1998","journal-title":"Canine Pract"},{"key":"bibr3-1040638717750429","doi-asserted-by":"publisher","DOI":"10.2460\/javma.1992.200.08.1123"},{"issue":"3","key":"bibr4-1040638717750429","first-page":"364","volume":"62","author":"Brooks M","year":"2001","journal-title":"AVJR"},{"key":"bibr5-1040638717750429","unstructured":"Canadian Council on Animal Care (CCAC). 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