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dc.date.accessioned 2019-07-04T17:00:38Z
dc.date.available 2019-07-04T17:00:38Z
dc.date.issued 2018-03
dc.identifier.uri http://sedici.unlp.edu.ar/handle/10915/77702
dc.description.abstract 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>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>A mutation. en
dc.format.extent 310-314 es
dc.language en es
dc.subject coagulopathy en
dc.subject Doberman Pinschers en
dc.subject genotyping en
dc.subject pyrosequencing en
dc.subject von Willebrand disease type 1 en
dc.title von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina en
dc.type Articulo es
sedici.identifier.other https://doi.org/10.1177/1040638717750429
sedici.identifier.issn 1943-4936 es
sedici.creator.person Crespi, Julián Alejandro es
sedici.creator.person Barrientos, Laura Soledad es
sedici.creator.person Giovambattista, Guillermo es
sedici.subject.materias Ciencias Veterinarias es
sedici.description.fulltext true es
mods.originInfo.place Facultad de Ciencias Veterinarias es
sedici.subtype Articulo es
sedici.rights.license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)
sedici.rights.uri http://creativecommons.org/licenses/by-nc-sa/4.0/
sedici.description.peerReview peer-review es
sedici.relation.journalTitle Journal of Veterinary Diagnostic Investigation es
sedici.relation.journalVolumeAndIssue vol. 30, no. 2 es

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Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) Except where otherwise noted, this item's license is described as Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0)