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dc.contributor.author
Crespi, Julian Alejandro
dc.contributor.author
Barrientos, Laura Soledad
dc.contributor.author
Giovambattista, Guillermo
dc.date.available
2018-06-12T18:47:31Z
dc.date.issued
2018-03
dc.identifier.citation
Crespi, Julian Alejandro; Barrientos, Laura Soledad; Giovambattista, Guillermo; von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina; American Association of Veterinary Laboratory Diagnosticians; Journal of Veterinary Diagnostic Investigation; 30; 2; 3-2018; 310-314
dc.identifier.issn
1040-6387
dc.identifier.uri
http://hdl.handle.net/11336/48394
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
American Association of Veterinary Laboratory Diagnosticians
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Coagulopathy
dc.subject
Doberman Pinschers
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Genotyping
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Pyrosequencing
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Von Willebrand Disease Type 1
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Otras Ciencias Veterinarias
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Ciencias Veterinarias
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CIENCIAS AGRÍCOLAS
dc.title
von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-06-11T14:32:03Z
dc.journal.volume
30
dc.journal.number
2
dc.journal.pagination
310-314
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Columbia
dc.description.fil
Fil: Crespi, Julian Alejandro. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina
dc.description.fil
Fil: Barrientos, Laura Soledad. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina
dc.description.fil
Fil: Giovambattista, Guillermo. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico CONICET- La Plata. Instituto de Genética Veterinaria "Ing. Fernando Noel Dulout". Universidad Nacional de La Plata. Facultad de Ciencias Veterinarias. Instituto de Genética Veterinaria; Argentina
dc.journal.title
Journal of Veterinary Diagnostic Investigation
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1177/1040638717750429
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://journals.sagepub.com/doi/10.1177/1040638717750429
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