{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,23]],"date-time":"2026-03-23T18:49:25Z","timestamp":1774291765540,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,12,17]],"date-time":"2023-12-17T00:00:00Z","timestamp":1702771200000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Clinical Pathol"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In dogs, hemophilia A is known to affect different breeds. This is a case report describing hemophilia A in a litter of Border Collies. A privately owned bitch and her puppies (<jats:italic>n<\/jats:italic>\u2009=\u20097) were presented to the referring veterinarian after acute hematoma formation in the male offspring (<jats:italic>n<\/jats:italic>\u2009=\u20093) following microchip implantation. Global coagulation testing, as well as determination of factor VIII and IX activity, were carried out. Based on the results, factor VIII deficiency was suspected. Two of the affected male puppies were euthanized within a few days. Genetic testing of the mother and the surviving male puppy resulted in the description of a deletion in exon 14 of the <jats:italic>F8<\/jats:italic> gene. This c.3206delA variant leads to a frameshift in amino acid sequence and a premature stop codon (p.Asn1069IlefsTer7). The detection of the mutation and consequent testing of related dogs revealed that the deletion most likely had occurred spontaneously in the mother and had been transmitted to several of her offspring in different litters. Identified carriers were taken out of the breeding scheme. It is concluded that genetic testing in the context of suspected genetic disease can lead to preventive measures, including timely exclusion of carriers from breeding.<\/jats:p>","DOI":"10.1111\/vcp.13312","type":"journal-article","created":{"date-parts":[[2023,12,18]],"date-time":"2023-12-18T01:19:08Z","timestamp":1702862348000},"page":"607-612","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Hemophilia A in a litter of Border Collies caused by a one base pair deletion in the <scp><i>F8<\/i><\/scp> gene"],"prefix":"10.1111","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6162-7515","authenticated-orcid":false,"given":"Maria","family":"Brockmann","sequence":"first","affiliation":[{"name":"Laboklin GmbH &amp; Co. KG  Bad Kissingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niels","family":"Mensing","sequence":"additional","affiliation":[{"name":"Tierarztpraxis Dr. Niels Mensing  Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"von Luckner","sequence":"additional","affiliation":[{"name":"Laboklin GmbH &amp; Co. KG  Bad Kissingen Germany"},{"name":"Anicura Ahlen  Ahlen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Laboklin GmbH &amp; Co. KG  Bad Kissingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Kehl","sequence":"additional","affiliation":[{"name":"Laboklin GmbH &amp; Co. KG  Bad Kissingen Germany"},{"name":"Comparative Experimental Pathology, School of Medicine Technical University of Munich (TUM)  Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.22233\/9781910443255.6"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12020134"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12834"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/vcp.12172"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rvsc.2014.05.007"},{"issue":"5","key":"e_1_2_5_7_1","first-page":"405","article-title":"Severe hemophilia A in a male old English sheep dog with a C\u2192T transition that created a premature stop codon in factor VIII","volume":"66","author":"Lozier JN","year":"2016","journal-title":"Comp Med"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.215426"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12101491"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1080\/01652176.1998.10807402"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.tcam.2012.07.006"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1965.tb01293.x"},{"key":"e_1_2_5_13_1","volume-title":"Schalm's Veterinary Hematology","author":"Weiss DJ","year":"2010"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/vr.d4677"},{"key":"e_1_2_5_15_1","unstructured":"GuiuCN.Molecular basis of hemophilia A and B in two dogs. 2021 final degree project Universitat Aut\u00f2noma de Barcelona."},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1623619"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1614984"},{"key":"e_1_2_5_18_1","first-page":"569","article-title":"Genetic analysis of haemophilic Havanese dogs","volume":"40","author":"Mischke R","year":"2011","journal-title":"Vet Clin Pathol"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/jsap.13198"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.2460\/javma.245.6.677"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-165X.2006.tb00115.x"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.1988.tb16142.x"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms3773"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2019-126007"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2021014735"}],"container-title":["Veterinary Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vcp.13312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T11:08:55Z","timestamp":1705057735000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/vcp.13312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1111\/vcp.13312"],"URL":"https:\/\/doi.org\/10.1111\/vcp.13312","archive":["Portico"],"relation":{},"ISSN":["0275-6382","1939-165X"],"issn-type":[{"value":"0275-6382","type":"print"},{"value":"1939-165X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12]]},"assertion":[{"value":"2023-06-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}