Y.Z. Zhang , J.X. Liu , H.Z. Shao , Z.W. Chi , H.L. Wang , S.J. Chen , Z. Chen , Z.Y. Wang , W. Huang
{"title":"中国大陆A型血友病遗传缺陷的研究","authors":"Y.Z. Zhang , J.X. Liu , H.Z. Shao , Z.W. Chi , H.L. Wang , S.J. Chen , Z. Chen , Z.Y. Wang , W. Huang","doi":"10.1016/S1050-3862(99)00005-4","DOIUrl":null,"url":null,"abstract":"<div><p>Southern blotting, PCR, DGGE and DNA sequencing were used to study gene mutations in 52 unrelated Chinese Hemophilia A patients. 18 out of 34 severe cases had intron 22 inversions, 13 had small gene lesions, of which five are novel.</p></div>","PeriodicalId":77142,"journal":{"name":"Genetic analysis, techniques and applications","volume":"15 6","pages":"Pages 205-207"},"PeriodicalIF":0.0000,"publicationDate":"1999-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S1050-3862(99)00005-4","citationCount":"4","resultStr":"{\"title\":\"Characterization of genetic defects of hemophilia A in mainland China\",\"authors\":\"Y.Z. Zhang , J.X. Liu , H.Z. Shao , Z.W. Chi , H.L. Wang , S.J. Chen , Z. Chen , Z.Y. Wang , W. Huang\",\"doi\":\"10.1016/S1050-3862(99)00005-4\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Southern blotting, PCR, DGGE and DNA sequencing were used to study gene mutations in 52 unrelated Chinese Hemophilia A patients. 18 out of 34 severe cases had intron 22 inversions, 13 had small gene lesions, of which five are novel.</p></div>\",\"PeriodicalId\":77142,\"journal\":{\"name\":\"Genetic analysis, techniques and applications\",\"volume\":\"15 6\",\"pages\":\"Pages 205-207\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1999-12-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/S1050-3862(99)00005-4\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetic analysis, techniques and applications\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1050386299000054\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetic analysis, techniques and applications","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1050386299000054","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Characterization of genetic defects of hemophilia A in mainland China
Southern blotting, PCR, DGGE and DNA sequencing were used to study gene mutations in 52 unrelated Chinese Hemophilia A patients. 18 out of 34 severe cases had intron 22 inversions, 13 had small gene lesions, of which five are novel.
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