{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T11:59:44Z","timestamp":1777636784922,"version":"3.51.4"},"reference-count":31,"publisher":"Wiley","issue":"s4","license":[{"start":{"date-parts":[[2014,4,25]],"date-time":"2014-04-25T00:00:00Z","timestamp":1398384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Molecular genetic tools are widely applied in inherited bleeding disorders. New genes involved in haemorrhagic disorders have been identified by genome wide linkage analysis on families with a specific phenotype. <jats:styled-content style=\"fixed-case\">LMNA<\/jats:styled-content>1 or <jats:styled-content style=\"fixed-case\">MCFD<\/jats:styled-content> in combined <jats:styled-content style=\"fixed-case\">FV<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">FVIII<\/jats:styled-content>\u2010deficiency and <jats:styled-content style=\"fixed-case\">VKORC<\/jats:styled-content>1 in vitamin K coagulation factor deficiency type 2 are two examples. Identification of the causative gene mutation has become standard for most bleeding disorders. Knowledge of the causative mutation allows genetic counselling in affected families and most importantly adds to the pathophysiological understanding of phenotypes. Haemophilia A represents a model as the <jats:italic>F8<\/jats:italic> gene mutation predicts the risk of developing an inhibitor and more recently also the bleeding phenotype. In this review novel genetic diagnostic strategies for bleeding disorders are outlined and inhibitor formation is presented as an example for clinical relevant phenotype\/genotype correlation studies.<\/jats:p>","DOI":"10.1111\/hae.12424","type":"journal-article","created":{"date-parts":[[2014,4,25]],"date-time":"2014-04-25T09:03:49Z","timestamp":1398416629000},"page":"50-53","source":"Crossref","is-referenced-by-count":15,"title":["Genomics of bleeding disorders"],"prefix":"10.1111","volume":"20","author":[{"given":"A. C.","family":"Goodeve","sequence":"first","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust and Haemostasis Research Group Department of Cardiovascular Science University of Sheffield Sheffield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Pavlova","sequence":"additional","affiliation":[{"name":"Institute of Experimental Haematology and Transfusion Medicine University Clinic Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Oldenburg","sequence":"additional","affiliation":[{"name":"Institute of Experimental Haematology and Transfusion Medicine University Clinic Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,4,25]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81146-0"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-09-3620"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature02214"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2010.03767.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-11-469403"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2010.02476.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2011.04260.x"},{"key":"e_1_2_4_9_1","first-page":"380","article-title":"Detection of VWF copy number variations by microarray analysis in von Willebrand disease type 3 index cases","volume":"118","author":"Bellissimo DB","year":"2011","journal-title":"Blood (ASH Annual Meeting Abstracts)"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-14-116"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12199"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.055285"},{"key":"e_1_2_4_13_1","first-page":"85","article-title":"A next generation sequencing approach for genotyping patients with hemophilia","volume":"11","author":"Josephson NC","year":"2013","journal-title":"J Thromb Haemost"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12339"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-168"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2011-09-379453"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1649954"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2006.01361.x"},{"key":"e_1_2_4_19_1","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1055\/s-0037-1615015","article-title":"Small deletion\/insertion mutations within poly\u2010A runs of the factor VIII gene mitigate the severe haemophilia A phenotype","volume":"79","author":"Oldenburg J","year":"1998","journal-title":"Thromb Haemost"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-02-483263"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH12-07-0521"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2007.02736.x"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2008.01962.x"},{"key":"e_1_2_4_24_1","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1055\/s-0038-1655944","article-title":"HLA class II profile: a weak determinant of factor VIII inhibitor development in severe haemophilia A. UKHCDO Inhibitor Working Party","volume":"77","author":"Hay CR","year":"1997","journal-title":"Thromb Haemost"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1655945"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2006.01362.x"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2009.03636.x"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-09-3918"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-05-024711"},{"key":"e_1_2_4_30_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-06-434803"},{"key":"e_1_2_4_31_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa075760"},{"key":"e_1_2_4_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2009.02122.x"}],"container-title":["Haemophilia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fhae.12424","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/hae.12424","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T23:55:22Z","timestamp":1694649322000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/hae.12424"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,25]]},"references-count":31,"journal-issue":{"issue":"s4","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1111\/hae.12424"],"URL":"https:\/\/doi.org\/10.1111\/hae.12424","archive":["Portico"],"relation":{},"ISSN":["1351-8216","1365-2516"],"issn-type":[{"value":"1351-8216","type":"print"},{"value":"1365-2516","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,25]]}}}