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The extragenic polymorphic site demonstrated by probe DX13 (locus DXS 15) and the intragenic polymorphic site demonstrated by Bgl I digestion and a factor VIII partial cDNA probe indicated that the mother of the index case carried a mutation in the X\u2010chromosome received from her nonhemophilic father rather than the X\u2010chromosome received from her mother. In spite of equivocal coagulation data, the mother's two sisters were shown not to be carriers of hemophilia A.<\/jats:p>","DOI":"10.1002\/ajh.2830280307","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T11:21:18Z","timestamp":1172056878000},"page":"167-169","source":"Crossref","is-referenced-by-count":2,"title":["Spontaneous mutation in the male gamete as a cause of hemophilia A: Clarification of a case using DNA probes"],"prefix":"10.1002","volume":"28","author":[{"given":"Phillip L.","family":"Howard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer B.","family":"Hoag","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edwin G.","family":"Bovill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas H.","family":"Heintz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"680","article-title":"Segregation analysis of hemophilia A and B","volume":"37","author":"Barrai I","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(84)91995-0"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198503143121103"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/314738a0"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198510033131402"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/14.11.4535"},{"key":"e_1_2_1_8_2","first-page":"9","article-title":"The use of deoxyribonucleic acid probes in the evaluation of hemophilia","volume":"17","author":"Howard P","year":"1987","journal-title":"Ann Clin Lab sci"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.3.1245"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1475-4754.1982.tb01001.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(83)90418-9"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.76.8.3683"},{"key":"e_1_2_1_13_2","volume-title":"Methods in Hematology\u2014the Hemophilias","author":"Graham JB","year":"1982"},{"key":"e_1_2_1_14_2","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1182\/blood.V67.6.1560.1560","article-title":"Carrier detection in hemophilia A: A cooperative international study. 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The efficacy of a universal discriminant","volume":"67","author":"Green P","year":"1986","journal-title":"Blood"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282556"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/324380a0"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(86)91262-6"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.2830280307","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.2830280307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T11:44:57Z","timestamp":1697888697000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.2830280307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,7]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1988,7]]}},"alternative-id":["10.1002\/ajh.2830280307"],"URL":"https:\/\/doi.org\/10.1002\/ajh.2830280307","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,7]]}}}