{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T17:18:09Z","timestamp":1770743889912,"version":"3.49.0"},"reference-count":28,"publisher":"American Veterinary Medical Association (AVMA)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ajvr"],"published-print":{"date-parts":[[2001,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n\t\t\t\t<jats:p>\n\t\t\t\t\t<jats:bold>Objective<\/jats:bold>\u2014To define the relationship between clinical\nexpression of a type-1 von Willebrand disease\nphenotype and genotype at 2 von Willebrand factor\nmarker loci in Doberman Pinschers.<\/jats:p>\n\t\t\t\t<jats:p>\n\t\t\t\t\t<jats:bold>Animals<\/jats:bold>\u2014102 client-owned Doberman Pinschers.<\/jats:p>\n\t\t\t\t<jats:p>\n\t\t\t\t\t<jats:bold>Procedures<\/jats:bold>\u2014Dogs were recruited on the basis of\nplasma von Willebrand factor concentration, clinical\nhistory, and pedigree. Blood samples and response to\na history questionnaire were obtained for each dog.\nPlasma von Willebrand factor concentration was measured\nby use of an ELISA, and genotyping was performed\nvia polymerase chain reaction for 1 intragenic\nand 1 extragenic von Willebrand factor marker.\nAmplification product size was determined by use of\npolyacrylamide gel electrophoresis (intragenic marker)\nor automated sequence analysis (extragenic marker).\nWestern blots were prepared from a subset of\ndogs with low plasma von Willebrand factor concentration\nto evaluate multimer distribution.<\/jats:p>\n\t\t\t\t<jats:p>\n\t\t\t\t\t<jats:bold>Results<\/jats:bold>\u2014Strong associations were detected\nbetween plasma von Willebrand factor concentration\nand von Willebrand factor marker genotype. Twentyfive\ndogs had substantial reduction in plasma von\nWillebrand factor concentration and multiple hemorrhagic\nevents. All were homozygous for a 157-basepair\nintragenic marker allele and homozygous or compound\nheterozygous for 1 of 4 extragenic marker alleles.\nThese marker genotypes were exclusively\ndetected in dogs with low plasma von Willebrand factor\nconcentration, although some dogs with these\ngenotypes did not have abnormal bleeding.<\/jats:p>\n\t\t\t\t<jats:p>\n\t\t\t\t\t<jats:bold>Conclusions and Clinical Relevance<\/jats:bold>\u2014Type-1 von\nWillebrand disease in Doberman Pinschers is associated\nwith the von Willebrand factor gene locus; however,\nthe expression pattern in this breed appears\nmore complex than that of a simple recessive trait.\n(<jats:italic>Am J Vet Res<\/jats:italic> 2001;62:364\u2013369)<\/jats:p>","DOI":"10.2460\/ajvr.2001.62.364","type":"journal-article","created":{"date-parts":[[2005,12,6]],"date-time":"2005-12-06T17:16:52Z","timestamp":1133889412000},"page":"364-369","source":"Crossref","is-referenced-by-count":19,"title":["von Willebrand disease phenotype and 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